D48V (p.Asp48Val) variant of SDHB (P21912)
D48V (p.Asp48Val) in SDHB (P21912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Mitochondrial complex 2 deficiency, nuclear type 4; Hereditary cancer-predisposi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
D48V (p.Asp48Val) variant details
- p.Asp48Val
- rs202101384
- ClinGen CA015528
- ClinVar RCV000032784
- ClinVar RCV000470589
- Conflicting interpretations
- Mitochondrial complex 2 deficiency, nuclear type 4; Hereditary cancer-predisposi
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- REVEL 0.92
- CADD 29.70
- PolyPhen-2 0.82
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Mitochondrial complex 2 deficiency, nuclear type 4; Hereditary c)
- EBI: Pathogenic (in MC2DN4)
- UniProt: Pathogenic (in MC2DN4)
- Most common in the South Asian population (allele frequency 0.00028)
- Structural context available
- Cited in: Somatic SDHB mutation in an extraadrenal pheochromocytoma. (PMID 17634472)
- Cited in: Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency. (PMID 22972948)