I24M (p.Ile24Met) variant of COL5A2 (Collagen alpha-2(V) chain)
I24M (p.Ile24Met) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
I24M (p.Ile24Met) variant details
- p.Ile24Met
- ExAC rs757874628
- TOPMed rs757874628
- gnomAD rs757874628
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.40
- CADD 22.10
- PolyPhen-2 0.14
- SIFT 0.05
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available