S31P (p.Ser31Pro) variant of KRT6A (Keratin, type II cytoskeletal 6A)
S31P (p.Ser31Pro) in KRT6A (Keratin, type II cytoskeletal 6A) is a missense change. 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.
S31P (p.Ser31Pro) variant details
- p.Ser31Pro
- TOPMed rs921902439
- gnomAD rs921902439
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.18
- CADD 13.80
- PolyPhen-2 0.09
- SIFT 0.11
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available