A54T (p.Ala54Thr) variant of KRT5 (Keratin, type II cytoskeletal 5)
A54T (p.Ala54Thr) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
A54T (p.Ala54Thr) variant details
- p.Ala54Thr
- rs1366927682
- ClinGen CA384930682
- ClinVar RCV002943754
- TOPMed rs1366927682
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.35
- CADD 16.40
- PolyPhen-2 0.06
- SIFT 0.25
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available