R128L (p.Arg128Leu) variant of COL5A2 (Collagen alpha-2(V) chain)
R128L (p.Arg128Leu) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
R128L (p.Arg128Leu) variant details
- p.Arg128Leu
- ExAC rs757439328
- TOPMed rs757439328
- gnomAD rs757439328
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.686
- REVEL 0.61
- CADD 26.10
- PolyPhen-2 0.98
- SIFT 0.23
- EBI: Benign
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available