S63P (p.Ser63Pro) variant of OPA1 (O60313)
S63P (p.Ser63Pro) in OPA1 (O60313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
S63P (p.Ser63Pro) variant details
- p.Ser63Pro
- gnomAD 3-193614877-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- REVEL 0.52
- CADD 24.00
- PolyPhen-2 0.46
- SIFT 0.02
- Most common in the 1KG:ESN population (allele frequency 0.13)
- Structural context available
- Literature evidence available