R76P (p.Arg76Pro) variant of KRT3 (Keratin, type II cytoskeletal 3)
R76P (p.Arg76Pro) in KRT3 (Keratin, type II cytoskeletal 3) 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 0.36 / 1. The record also includes population frequency data and structural context.
R76P (p.Arg76Pro) variant details
- p.Arg76Pro
- 1000Genomes rs201539577
- ESP rs201539577
- ExAC rs201539577
- TOPMed rs201539577
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.44
- CADD 16.20
- PolyPhen-2 0.16
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available