R37P (p.Arg37Pro) variant of KRT1 (Keratin, type II cytoskeletal 1)
R37P (p.Arg37Pro) in KRT1 (Keratin, type II cytoskeletal 1) 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 0.48 / 1. The record also includes population frequency data and structural context.
R37P (p.Arg37Pro) variant details
- p.Arg37Pro
- ExAC rs780600291
- TOPMed rs780600291
- gnomAD rs780600291
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.41
- CADD 22.80
- PolyPhen-2 0.41
- SIFT 0.14
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available