P154S (p.Pro154Ser) variant of KRT13 (Keratin, type I cytoskeletal 13)
P154S (p.Pro154Ser) in KRT13 (Keratin, type I cytoskeletal 13) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. 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.
P154S (p.Pro154Ser) variant details
- p.Pro154Ser
- ExAC rs773983288
- gnomAD rs773983288
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0729
- REVEL 0.08
- CADD 0.05
- PolyPhen-2 0.06
- SIFT 0.57
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available