A7T (p.Ala7Thr) variant of OPA1 (O60313)
A7T (p.Ala7Thr) in OPA1 (O60313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
A7T (p.Ala7Thr) variant details
- p.Ala7Thr
- gnomAD rs1724948642
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.41
- CADD 22.90
- PolyPhen-2 0.02
- SIFT 0.12
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.55)
- Structural context available