G130S (p.Gly130Ser) variant of KRT3 (Keratin, type II cytoskeletal 3)
G130S (p.Gly130Ser) in KRT3 (Keratin, type II cytoskeletal 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
G130S (p.Gly130Ser) variant details
- p.Gly130Ser
- gnomAD rs1329373186
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.34
- CADD 18.90
- PolyPhen-2 0.50
- SIFT 0.32
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available