S5T (p.Ser5Thr) variant of KRT6B (Keratin, type II cytoskeletal 6B)
S5T (p.Ser5Thr) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
S5T (p.Ser5Thr) variant details
- p.Ser5Thr
- gnomAD rs1363723036
- Missense
- Variant Prioritization Score for Impact Estimate 0.142
- REVEL 0.03
- CADD 14.90
- PolyPhen-2 0.00
- SIFT 0.08
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available