K13R (p.Lys13Arg) variant of GBA1 (P04062)
K13R (p.Lys13Arg) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
K13R (p.Lys13Arg) variant details
- p.Lys13Arg
- rs150466109
- ClinGen CA202262
- cosmic curated COSV10609
- ClinVar RCV000177099
- Benign
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- REVEL 0.18
- AlphaMissense 0.08
- MetaLR 0.01
- MetaSVM -0.96
- CADD 6.52
- PolyPhen-2 0.00
- ClinVar: Benign (not specified; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available
- Cited in: Carrier screening in individuals of Ashkenazi Jewish descent. (PMID 18197057)
- Cited in: ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of… (PMID 19888064)