V52V (p.Val52Val) variant of OCRL (Q01968)
V52V (p.Val52Val) in OCRL (Q01968) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
V52V (p.Val52Val) variant details
- p.Val52Val
- rs1229712591
- gnomAD X-129544994-T-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.246
- CADD 10.30
- Population evidence available
- Structural context available
- Literature evidence available