S44T (p.Ser44Thr) variant of KRT6B (Keratin, type II cytoskeletal 6B)
S44T (p.Ser44Thr) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
S44T (p.Ser44Thr) variant details
- p.Ser44Thr
- gnomAD rs1940412753
- Missense
- Variant Prioritization Score for Impact Estimate 0.172
- REVEL 0.06
- CADD 10.70
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available