I39T (p.Ile39Thr) variant of COL5A2 (Collagen alpha-2(V) chain)
I39T (p.Ile39Thr) in COL5A2 (Collagen alpha-2(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.
I39T (p.Ile39Thr) variant details
- p.Ile39Thr
- gnomAD rs1322519218
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.16
- CADD 19.60
- PolyPhen-2 0.03
- SIFT 0.61
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available