L30R (p.Leu30Arg) variant of OPA1 (O60313)
L30R (p.Leu30Arg) in OPA1 (O60313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
L30R (p.Leu30Arg) variant details
- p.Leu30Arg
- gnomAD 3-193614779-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.62
- REVEL 0.65
- CADD 24.00
- PolyPhen-2 0.35
- SIFT 0.00
- Most common in the HGDP:MBUTI population (allele frequency 0.96)
- Structural context available
- Literature evidence available