R30P (p.Arg30Pro) variant of KRT17 (Keratin, type I cytoskeletal 17)
R30P (p.Arg30Pro) in KRT17 (Keratin, type I cytoskeletal 17) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
R30P (p.Arg30Pro) variant details
- p.Arg30Pro
- rs2229512
- ClinGen CA8563852
- ClinVar RCV003222912
- 1000Genomes rs2229512
- Benign/Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.52
- CADD 18.90
- PolyPhen-2 0.16
- SIFT 0.21
- ClinVar: Benign/Likely benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available