Q61R (p.Gln61Arg) variant of OPA1 (O60313)
Q61R (p.Gln61Arg) in OPA1 (O60313) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
Q61R (p.Gln61Arg) variant details
- p.Gln61Arg
- rs558532319
- ClinGen CA2758946
- ClinVar RCV001718952
- ClinVar RCV004530789
- Benign/Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.21
- CADD 18.00
- PolyPhen-2 0.01
- SIFT 0.41
- ClinVar: Benign/Likely benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available