R69P (p.Arg69Pro) variant of KRT4 (Keratin, type II cytoskeletal 4)
R69P (p.Arg69Pro) in KRT4 (Keratin, type II cytoskeletal 4) is a missense change. Clinical records from ClinVar 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 0.31 / 1. The record also includes population frequency data and structural context.
R69P (p.Arg69Pro) variant details
- p.Arg69Pro
- ExAC rs769322571
- TOPMed rs769322571
- gnomAD rs769322571
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.19
- CADD 20.90
- PolyPhen-2 0.63
- SIFT 0.21
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available