S31F (p.Ser31Phe) variant of KRT8 (Keratin, type II cytoskeletal 8)
S31F (p.Ser31Phe) in KRT8 (Keratin, type II cytoskeletal 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
S31F (p.Ser31Phe) variant details
- p.Ser31Phe
- TOPMed rs1413919473
- gnomAD rs1413919473
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- CADD 19.50
- PolyPhen-2 0.16
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available