I74R (p.Ile74Arg) variant of COL5A2 (Collagen alpha-2(V) chain)
I74R (p.Ile74Arg) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
I74R (p.Ile74Arg) variant details
- p.Ile74Arg
- ExAC rs771419836
- TOPMed rs771419836
- gnomAD rs771419836
- Missense
- Variant Prioritization Score for Impact Estimate 0.668
- REVEL 0.68
- CADD 27.70
- PolyPhen-2 0.93
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available