P53R (p.Pro53Arg) variant of OPA1 (O60313)
P53R (p.Pro53Arg) in OPA1 (O60313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
P53R (p.Pro53Arg) variant details
- p.Pro53Arg
- gnomAD rs1209365988
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.40
- CADD 21.10
- PolyPhen-2 0.00
- SIFT 0.17
- Most common in the HGDP:ORCADIAN population (allele frequency 0.5)
- Structural context available