L30P (p.Leu30Pro) variant of OPA1 (O60313)
L30P (p.Leu30Pro) in OPA1 (O60313) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
L30P (p.Leu30Pro) variant details
- p.Leu30Pro
- rs758056583
- ClinGen CA2758934
- ClinVar RCV001755531
- ExAC rs758056583
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- REVEL 0.47
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.07
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.12)
- Structural context available