G103D (p.Gly103Asp) variant of KRT12 (Keratin, type I cytoskeletal 12)
G103D (p.Gly103Asp) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
G103D (p.Gly103Asp) variant details
- p.Gly103Asp
- ExAC rs773895186
- gnomAD rs773895186
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.39
- CADD 16.50
- PolyPhen-2 0.79
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available