R38Q (p.Arg38Gln) variant of OPA1 (O60313)
R38Q (p.Arg38Gln) 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 0.48 / 1. The record also includes population frequency data and structural context.
R38Q (p.Arg38Gln) variant details
- p.Arg38Gln
- rs866025924
- ClinGen CA90567020
- NCI-TCGA Cosmic COSV6248
- cosmic curated COSV62482
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.40
- CADD 24.00
- PolyPhen-2 0.36
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available