H46R (p.His46Arg) variant of OCRL (Q01968)
H46R (p.His46Arg) in OCRL (Q01968) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
H46R (p.His46Arg) variant details
- p.His46Arg
- Ensembl rs1935858989
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.23
- MetaLR 0.57
- MetaSVM -0.36
- CADD 16.60
- PolyPhen-2 0.00
- SIFT 0.40
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available