p.Arg38 Ser43del variant of OPA1 (O60313)
p.Arg38 Ser43del in OPA1 (O60313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
p.Arg38 Ser43del variant details
- rs863224140
- gnomAD 3-193614797-TTTCA
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.313
- CADD 18.60
- Most common in the HGDP:PAPUANSEPIK population (allele frequency 1)
- Structural context available
- Literature evidence available