S45N (p.Ser45Asn) variant of KRT12 (Keratin, type I cytoskeletal 12)
S45N (p.Ser45Asn) 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.
S45N (p.Ser45Asn) variant details
- p.Ser45Asn
- TOPMed rs1267702304
- gnomAD rs1267702304
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.18
- CADD 4.04
- PolyPhen-2 0.00
- SIFT 0.11
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available