A146G (p.Ala146Gly) variant of KRT13 (Keratin, type I cytoskeletal 13)
A146G (p.Ala146Gly) in KRT13 (Keratin, type I cytoskeletal 13) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided; White sponge nevus 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
A146G (p.Ala146Gly) variant details
- p.Ala146Gly
- rs760134
- ClinGen CA8560795
- cosmic curated COSV10801
- ClinVar RCV000367695
- Benign
- not provided; White sponge nevus 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.19
- CADD 0.33
- PolyPhen-2 0.25
- SIFT 1.00
- ClinVar: Benign (not provided; White sponge nevus 2)
- EBI: Benign (in dbSNP:rs760134)
- UniProt: Benign (in dbSNP:rs760134)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available