A10P (p.Ala10Pro) variant of OPA1 (O60313)
A10P (p.Ala10Pro) in OPA1 (O60313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
A10P (p.Ala10Pro) variant details
- p.Ala10Pro
- gnomAD rs1374210167
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.53
- CADD 23.00
- PolyPhen-2 0.13
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available