K102Q (p.Lys102Gln) variant of CBS (Cystathionine beta-synthase)
K102Q (p.Lys102Gln) in CBS (Cystathionine beta-synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not provided; Connective tissue disorder; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K102Q (p.Lys102Gln) variant details
- p.Lys102Gln
- rs34040148
- ClinGen CA302971
- ClinVar RCV000178036
- ClinVar RCV000224394
- Benign/Likely benign
- not provided; Connective tissue disorder; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.58
- ESM-1b 1.00
- AlphaMissense 0.10
- CADD 18.50
- PolyPhen-2 0.19
- SIFT 0.08
- ClinVar: Benign/Likely benign (not provided; Connective tissue disorder; not specified)
- EBI: Benign (in dbSNP:rs34040148)
- UniProt: Benign (in dbSNP:rs34040148)
- Most common in the HGDP:MANDENKA population (allele frequency 0.21)
- Structural context available
- CBS low-B6 imputed and refined: score 0.034
- Cited in: Homocystinuria in the Arab population of Israel: identification of two novel mutations using DGGE analysis. (PMID 11013450)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)