H34N (p.His34Asn) variant of OPA1 (O60313)
H34N (p.His34Asn) in OPA1 (O60313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
H34N (p.His34Asn) variant details
- p.His34Asn
- gnomAD 3-193614790-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- REVEL 0.43
- CADD 21.80
- PolyPhen-2 0.97
- SIFT 0.06
- Most common in the HGDP:MBUTI population (allele frequency 0.96)
- Structural context available
- Literature evidence available