I22V (p.Ile22Val) variant of CRB1 (Protein crumbs homolog 1)
I22V (p.Ile22Val) in CRB1 (Protein crumbs homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
I22V (p.Ile22Val) variant details
- p.Ile22Val
- ExAC rs774989883
- gnomAD rs774989883
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.15
- MetaLR 0.38
- MetaSVM -0.65
- CADD 10.30
- PolyPhen-2 0.00
- SIFT 0.88
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available