Q38R (p.Gln38Arg) variant of OCRL (Q01968)
Q38R (p.Gln38Arg) in OCRL (Q01968) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
Q38R (p.Gln38Arg) variant details
- p.Gln38Arg
- gnomAD X-129540817-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.43
- MetaLR 0.61
- MetaSVM -0.13
- CADD 22.10
- PolyPhen-2 0.00
- SIFT 0.44
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available