T42I (p.Thr42Ile) variant of COL5A2 (Collagen alpha-2(V) chain)
T42I (p.Thr42Ile) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
T42I (p.Thr42Ile) variant details
- p.Thr42Ile
- Ensembl rs1553519049
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.02
- CADD 19.80
- PolyPhen-2 0.02
- SIFT 0.25
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available