R45H (p.Arg45His) variant of ERCC5 (P28715)
R45H (p.Arg45His) in ERCC5 (P28715) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
R45H (p.Arg45His) variant details
- p.Arg45His
- rs140917545
- cosmic curated COSV63248
- 1000Genomes rs140917545
- ESP rs140917545
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- CADD 16.30
- PolyPhen-2 0.02
- SIFT 0.05
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the 1KG:ASW population (allele frequency 0.0098)
- Structural context available