A25S (p.Ala25Ser) variant of SDHB (P21912)
A25S (p.Ala25Ser) in SDHB (P21912) 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 4; Gastrointestinal stromal tum. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
A25S (p.Ala25Ser) variant details
- p.Ala25Ser
- rs768101924
- ClinGen CA338228440
- ClinVar RCV002002807
- ClinVar RCV004804329
- Uncertain significance
- Mitochondrial complex 2 deficiency, nuclear type 4; Gastrointestinal stromal tum
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.45
- CADD 21.20
- PolyPhen-2 0.00
- SIFT 0.29
- ClinVar: Uncertain significance (Mitochondrial complex 2 deficiency, nuclear type 4; Gastrointest)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- 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)