A29P (p.Ala29Pro) variant of SDHD (O14521)
A29P (p.Ala29Pro) in SDHD (O14521) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Mitochondrial complex 2 deficiency, nuclear type 3; Hereditary cancer-predisposi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
A29P (p.Ala29Pro) variant details
- p.Ala29Pro
- rs776930864
- ClinGen CA071569
- ClinVar RCV001775826
- ClinVar RCV002230657
- Uncertain significance
- Mitochondrial complex 2 deficiency, nuclear type 3; Hereditary cancer-predisposi
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- REVEL 0.66
- CADD 23.60
- PolyPhen-2 0.35
- SIFT 0.12
- ClinVar: Uncertain significance (Mitochondrial complex 2 deficiency, nuclear type 3; Hereditary c)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)
- Cited in: Genetics of Endocrine and Neuroendocrine Neoplasias (PDQ®): Health Professional Version. (PMID 26389271)