Q40R (p.Gln40Arg) variant of CRB1 (Protein crumbs homolog 1)
Q40R (p.Gln40Arg) in CRB1 (Protein crumbs homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
Q40R (p.Gln40Arg) variant details
- p.Gln40Arg
- ExAC rs761295842
- gnomAD rs761295842
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.35
- MetaLR 0.61
- MetaSVM -0.02
- CADD 1.78
- PolyPhen-2 0.20
- SIFT 0.24
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available