P100R (p.Pro100Arg) variant of COL5A2 (Collagen alpha-2(V) chain)
P100R (p.Pro100Arg) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
P100R (p.Pro100Arg) variant details
- p.Pro100Arg
- ExAC rs762386823
- gnomAD rs762386823
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.15
- CADD 22.00
- PolyPhen-2 0.01
- SIFT 0.05
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available