I42T (p.Ile42Thr) variant of OCRL (Q01968)
I42T (p.Ile42Thr) 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.
I42T (p.Ile42Thr) variant details
- p.Ile42Thr
- gnomAD X-129544963-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.48
- MetaLR 0.64
- MetaSVM 0.24
- CADD 21.40
- PolyPhen-2 0.05
- SIFT 0.43
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available