S37L (p.Ser37Leu) variant of OPA1 (O60313)
S37L (p.Ser37Leu) in OPA1 (O60313) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
S37L (p.Ser37Leu) variant details
- p.Ser37Leu
- rs149756039
- ClinGen CA90567010
- cosmic curated COSV62481
- ClinVar RCV003439092
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- REVEL 0.40
- CADD 23.50
- PolyPhen-2 0.21
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.12)
- Structural context available