H51N (p.His51Asn) variant of OCRL (Q01968)
H51N (p.His51Asn) in OCRL (Q01968) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
H51N (p.His51Asn) variant details
- p.His51Asn
- gnomAD X-129544989-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.26
- MetaLR 0.62
- MetaSVM -0.37
- CADD 17.10
- PolyPhen-2 0.00
- SIFT 0.50
- Population evidence available
- Structural context available
- Literature evidence available