A83V (p.Ala83Val) variant of KRT12 (Keratin, type I cytoskeletal 12)
A83V (p.Ala83Val) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
A83V (p.Ala83Val) variant details
- p.Ala83Val
- TOPMed rs1394071769
- gnomAD rs1394071769
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.19
- CADD 4.66
- PolyPhen-2 0.02
- SIFT 0.08
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available