P29Q (p.Pro29Gln) variant of OPA1 (O60313)
P29Q (p.Pro29Gln) in OPA1 (O60313) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
P29Q (p.Pro29Gln) variant details
- p.Pro29Gln
- rs2474574926
- ClinGen CA355786473
- ClinVar RCV003725445
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.45
- CADD 23.20
- PolyPhen-2 0.50
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available