S76R (p.Ser76Arg) variant of KRT6B (Keratin, type II cytoskeletal 6B)
S76R (p.Ser76Arg) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
S76R (p.Ser76Arg) variant details
- p.Ser76Arg
- TOPMed rs1392954643
- gnomAD rs1392954643
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.13
- CADD 21.50
- PolyPhen-2 0.16
- SIFT 0.10
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available