L17S (p.Leu17Ser) variant of OPA1 (O60313)
L17S (p.Leu17Ser) in OPA1 (O60313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
L17S (p.Leu17Ser) variant details
- p.Leu17Ser
- gnomAD 3-193614740-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- REVEL 0.65
- CADD 24.70
- PolyPhen-2 0.38
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available