H4I (p.His4Ile) variant of COL5A1 (Collagen alpha-1(V) chain)
H4I (p.His4Ile) in COL5A1 (Collagen alpha-1(V) chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
H4I (p.His4Ile) variant details
- p.His4Ile
- gnomAD 9-134642195-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.492
- CADD 24.30
- Population evidence available
- Structural context available
- Literature evidence available