R32P (p.Arg32Pro) variant of KRT8 (Keratin, type II cytoskeletal 8)
R32P (p.Arg32Pro) in KRT8 (Keratin, type II cytoskeletal 8) is a missense change. Clinical records from ClinVar, EBI, 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 0.62 / 1. The record also includes population frequency data and structural context.
R32P (p.Arg32Pro) variant details
- p.Arg32Pro
- rs778111216
- ClinGen CA6590620
- ClinVar RCV004341660
- ExAC rs778111216
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- CADD 22.10
- PolyPhen-2 0.01
- SIFT 0.06
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available