S27R (p.Ser27Arg) variant of OPA1 (O60313)
S27R (p.Ser27Arg) in OPA1 (O60313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
S27R (p.Ser27Arg) variant details
- p.Ser27Arg
- gnomAD 3-193614771-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.31
- CADD 9.60
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.12)
- Structural context available
- Literature evidence available