S27N (p.Ser27Asn) variant of OPA1 (O60313)
S27N (p.Ser27Asn) in OPA1 (O60313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
S27N (p.Ser27Asn) variant details
- p.Ser27Asn
- Ensembl rs751747624
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.14
- CADD 14.70
- PolyPhen-2 0.00
- SIFT 0.43
- Most common in the HGDP:MBUTI population (allele frequency 0.96)
- Structural context available