P154T (p.Pro154Thr) variant of KRT13 (Keratin, type I cytoskeletal 13)
P154T (p.Pro154Thr) in KRT13 (Keratin, type I cytoskeletal 13) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
P154T (p.Pro154Thr) variant details
- p.Pro154Thr
- ExAC rs773983288
- gnomAD rs773983288
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0707
- REVEL 0.08
- CADD 0.15
- PolyPhen-2 0.06
- SIFT 0.12
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available