V7I (p.Val7Ile) variant of OCRL (Q01968)
V7I (p.Val7Ile) in OCRL (Q01968) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
V7I (p.Val7Ile) variant details
- p.Val7Ile
- gnomAD X-129540458-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.29
- MetaLR 0.40
- MetaSVM -0.55
- CADD 13.40
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available