G82S (p.Gly82Ser) variant of KRT17 (Keratin, type I cytoskeletal 17)
G82S (p.Gly82Ser) in KRT17 (Keratin, type I cytoskeletal 17) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
G82S (p.Gly82Ser) variant details
- p.Gly82Ser
- rs368104564
- gnomAD 17-41620488-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- CADD 11.00
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Literature evidence available