H42N (p.His42Asn) variant of OPA1 (O60313)
H42N (p.His42Asn) in OPA1 (O60313) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
H42N (p.His42Asn) variant details
- p.His42Asn
- ESP rs145563233
- ExAC rs145563233
- TOPMed rs145563233
- gnomAD rs145563233
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.22
- CADD 17.00
- PolyPhen-2 0.03
- SIFT 0.12
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:PAPUANSEPIK population (allele frequency 1)
- Structural context available