S64del (p.Ser64del) variant of OPA1 (O60313)
S64del (p.Ser64del) 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, published literature, and structural context.
S64del (p.Ser64del) variant details
- gnomAD 3-193614880-TCTC-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.463
- CADD 18.50
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.12)
- Structural context available
- Literature evidence available