S21G (p.Ser21Gly) variant of OPA1 (O60313)
S21G (p.Ser21Gly) in OPA1 (O60313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
S21G (p.Ser21Gly) variant details
- p.Ser21Gly
- gnomAD 3-193614751-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.32
- CADD 20.20
- PolyPhen-2 0.04
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available