S31A (p.Ser31Ala) variant of KRT8 (Keratin, type II cytoskeletal 8)
S31A (p.Ser31Ala) in KRT8 (Keratin, type II cytoskeletal 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
S31A (p.Ser31Ala) variant details
- p.Ser31Ala
- cosmic curated COSV53175
- ExAC rs771489011
- gnomAD rs771489011
- Missense
- Variant Prioritization Score for Impact Estimate 0.0781
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available