V13F (p.Val13Phe) variant of OPA1 (O60313)
V13F (p.Val13Phe) in OPA1 (O60313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
V13F (p.Val13Phe) variant details
- p.Val13Phe
- gnomAD 3-193614727-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.43
- CADD 23.60
- PolyPhen-2 0.18
- SIFT 0.04
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available