A42T (p.Ala42Thr) variant of KRT3 (Keratin, type II cytoskeletal 3)
A42T (p.Ala42Thr) in KRT3 (Keratin, type II cytoskeletal 3) is a missense change. Clinical records from ClinVar, EBI, 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 0.33 / 1. The record also includes population frequency data and structural context.
A42T (p.Ala42Thr) variant details
- p.Ala42Thr
- ExAC rs768064246
- gnomAD rs768064246
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.20
- CADD 13.50
- PolyPhen-2 0.04
- SIFT 0.20
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available