P29A (p.Pro29Ala) variant of OPA1 (O60313)
P29A (p.Pro29Ala) in OPA1 (O60313) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type); not sp. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
P29A (p.Pro29Ala) variant details
- p.Pro29Ala
- rs145565705
- ClinGen CA2758932
- cosmic curated COSV10441
- ClinVar RCV000594159
- Conflicting interpretations
- Mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type); not sp
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.42
- CADD 21.40
- PolyPhen-2 0.06
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (Mitochondrial DNA depletion syndrome 14B (cardioencephalomyopath)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:PAPUANSEPIK population (allele frequency 1)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)