K48R (p.Lys48Arg) variant of OCRL (Q01968)
K48R (p.Lys48Arg) in OCRL (Q01968) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
K48R (p.Lys48Arg) variant details
- p.Lys48Arg
- gnomAD X-129544979-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.406
- CADD 25.80
- Population evidence available
- Structural context available
- Literature evidence available