R14L (p.Arg14Leu) variant of COL5A1 (Collagen alpha-1(V) chain)
R14L (p.Arg14Leu) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
R14L (p.Arg14Leu) variant details
- p.Arg14Leu
- TOPMed rs1399334659
- gnomAD rs1399334659
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.28
- CADD 15.40
- PolyPhen-2 0.00
- SIFT 0.66
- Most common in the Finnish in Finland (FIN) population (allele frequency 4.1e-05)
- Structural context available