S54P (p.Ser54Pro) variant of KRT14 (Keratin, type I cytoskeletal 14)
S54P (p.Ser54Pro) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. Clinical records from ClinVar 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 0.47 / 1. The record also includes population frequency data and structural context.
S54P (p.Ser54Pro) variant details
- p.Ser54Pro
- ExAC rs756225120
- TOPMed rs756225120
- gnomAD rs756225120
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.40
- CADD 9.85
- PolyPhen-2 0.06
- SIFT 0.10
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available