A86V (p.Ala86Val) variant of KRT8 (Keratin, type II cytoskeletal 8)
A86V (p.Ala86Val) in KRT8 (Keratin, type II cytoskeletal 8) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
A86V (p.Ala86Val) variant details
- p.Ala86Val
- TOPMed rs1230540490
- gnomAD rs1230540490
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- CADD 21.20
- PolyPhen-2 0.02
- SIFT 0.28
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available