G21R (p.Gly21Arg) variant of KRT16 (Keratin, type I cytoskeletal 16)
G21R (p.Gly21Arg) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
G21R (p.Gly21Arg) variant details
- p.Gly21Arg
- rs779409999
- ClinGen CA8563367
- ClinVar RCV002710677
- ExAC rs779409999
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.29
- CADD 20.20
- PolyPhen-2 0.96
- SIFT 0.20
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available