H20Y (p.His20Tyr) variant of OPA1 (O60313)
H20Y (p.His20Tyr) in OPA1 (O60313) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
H20Y (p.His20Tyr) variant details
- p.His20Tyr
- rs1321305109
- ClinGen CA355786413
- ClinVar RCV002610329
- gnomAD rs1321305109
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.10
- CADD 10.10
- PolyPhen-2 0.03
- SIFT 1.00
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:STU population (allele frequency 0.37)
- Structural context available