P118R (p.Pro118Arg) variant of COL5A2 (Collagen alpha-2(V) chain)
P118R (p.Pro118Arg) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. Clinical records from ClinVar, EBI, 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 0.73 / 1. The record also includes population frequency data and structural context.
P118R (p.Pro118Arg) variant details
- p.Pro118Arg
- rs1224192066
- ClinGen CA349864137
- ClinVar RCV002224271
- TOPMed rs1224192066
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- REVEL 0.70
- CADD 25.40
- PolyPhen-2 0.99
- SIFT 0.05
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available