T131M (p.Thr131Met) variant of KRT8 (Keratin, type II cytoskeletal 8)
T131M (p.Thr131Met) 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 0.47 / 1. The record also includes population frequency data.
T131M (p.Thr131Met) variant details
- p.Thr131Met
- cosmic curated COSV99510
- ExAC rs752152485
- TOPMed rs752152485
- gnomAD rs752152485
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- CADD 21.50
- PolyPhen-2 0.06
- SIFT 0.17
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)