A88G (p.Ala88Gly) variant of KRT3 (Keratin, type II cytoskeletal 3)
A88G (p.Ala88Gly) in KRT3 (Keratin, type II cytoskeletal 3) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
A88G (p.Ala88Gly) variant details
- p.Ala88Gly
- rs200393349
- 1000Genomes rs200393349
- ExAC rs200393349
- TOPMed rs200393349
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.07
- AlphaMissense 0.05
- MetaLR 0.29
- MetaSVM -0.88
- CADD 8.18
- PolyPhen-2 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available