D38V (p.Asp38Val) variant of SDHA (P31040)
D38V (p.Asp38Val) in SDHA (P31040) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Neurodegeneration with ataxia and late-onset optic atrophy; Mitochondrial comple. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
D38V (p.Asp38Val) variant details
- p.Asp38Val
- rs34635677
- ClinGen CA358585
- cosmic curated COSV53772
- ClinVar RCV000210535
- Benign/Likely benign
- Neurodegeneration with ataxia and late-onset optic atrophy; Mitochondrial comple
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.08
- CADD 18.70
- PolyPhen-2 0.00
- SIFT 0.42
- ClinVar: Benign/Likely benign (Neurodegeneration with ataxia and late-onset optic atrophy; Mito)
- EBI: Benign (in dbSNP:rs34635677)
- UniProt: Benign (in dbSNP:rs34635677)
- Most common in the HGDP:KALASH population (allele frequency 0.21)
- Structural context available
- Cited in: Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID 14702039)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)