I42K (p.Ile42Lys) variant of OCRL (Q01968)
I42K (p.Ile42Lys) in OCRL (Q01968) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
I42K (p.Ile42Lys) variant details
- p.Ile42Lys
- gnomAD X-129544963-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- REVEL 0.51
- MetaLR 0.63
- MetaSVM 0.04
- CADD 21.60
- PolyPhen-2 0.00
- SIFT 0.31
- Population evidence available
- Structural context available
- Literature evidence available