D141N (p.Asp141Asn) variant of KRT12 (Keratin, type I cytoskeletal 12)
D141N (p.Asp141Asn) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
D141N (p.Asp141Asn) variant details
- p.Asp141Asn
- ExAC rs775252087
- gnomAD rs775252087
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.42
- CADD 22.10
- PolyPhen-2 0.06
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available