V13A (p.Val13Ala) variant of OPA1 (O60313)
V13A (p.Val13Ala) in OPA1 (O60313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
V13A (p.Val13Ala) variant details
- p.Val13Ala
- TOPMed rs1728753452
- gnomAD rs1728753452
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.32
- AlphaMissense 0.16
- MetaLR 0.49
- MetaSVM -0.10
- CADD 21.50
- PolyPhen-2 0.00
- Most common in the HGDP:PAPUANSEPIK population (allele frequency 1)
- Structural context available