S7I (p.Ser7Ile) variant of COL4A5 (Collagen alpha-5(IV) chain)
S7I (p.Ser7Ile) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
S7I (p.Ser7Ile) variant details
- p.Ser7Ile
- gnomAD X-108440145-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.21
- MetaLR 0.42
- MetaSVM -0.66
- CADD 22.10
- PolyPhen-2 0.02
- SIFT 0.47
- Population evidence available
- Structural context available
- Literature evidence available