I74T (p.Ile74Thr) variant of COL5A2 (Collagen alpha-2(V) chain)
I74T (p.Ile74Thr) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
I74T (p.Ile74Thr) variant details
- p.Ile74Thr
- ExAC rs771419836
- TOPMed rs771419836
- gnomAD rs771419836
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- REVEL 0.51
- CADD 26.40
- PolyPhen-2 0.56
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available