H46N (p.His46Asn) variant of OCRL (Q01968)
H46N (p.His46Asn) in OCRL (Q01968) 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.
H46N (p.His46Asn) variant details
- p.His46Asn
- gnomAD X-129544974-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.27
- MetaLR 0.59
- MetaSVM -0.31
- CADD 10.80
- PolyPhen-2 0.02
- SIFT 0.45
- Population evidence available
- Structural context available
- Literature evidence available