S37G (p.Ser37Gly) variant of KRT12 (Keratin, type I cytoskeletal 12)
S37G (p.Ser37Gly) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
S37G (p.Ser37Gly) variant details
- p.Ser37Gly
- gnomAD rs1249779228
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.12
- CADD 17.40
- PolyPhen-2 0.00
- SIFT 0.10
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available