I20V (p.Ile20Val) variant of CRB1 (Protein crumbs homolog 1)
I20V (p.Ile20Val) in CRB1 (Protein crumbs homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
I20V (p.Ile20Val) variant details
- p.Ile20Val
- gnomAD 1-197268470-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.09
- MetaLR 0.41
- MetaSVM -0.63
- CADD 13.10
- PolyPhen-2 0.01
- SIFT 0.49
- Population evidence available
- Structural context available
- Literature evidence available