S14R (p.Ser14Arg) variant of KRT6B (Keratin, type II cytoskeletal 6B)
S14R (p.Ser14Arg) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
S14R (p.Ser14Arg) variant details
- p.Ser14Arg
- gnomAD rs1426806737
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.14
- CADD 21.80
- PolyPhen-2 0.00
- SIFT 0.03
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available