Q20R (p.Gln20Arg) variant of COL5A2 (Collagen alpha-2(V) chain)
Q20R (p.Gln20Arg) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
Q20R (p.Gln20Arg) variant details
- p.Gln20Arg
- Ensembl rs1688744154
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.23
- CADD 18.30
- PolyPhen-2 0.00
- SIFT 0.35
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available