S64C (p.Ser64Cys) variant of OPA1 (O60313)
S64C (p.Ser64Cys) in OPA1 (O60313) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
S64C (p.Ser64Cys) variant details
- p.Ser64Cys
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10065
- NCI-TCGA Cosmic COSV6247
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.678
- REVEL 0.64
- CADD 25.40
- PolyPhen-2 0.32
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:BIAKA population (allele frequency 0.32)
- Structural context available