G53R (p.Gly53Arg) variant of SDHB (P21912)
G53R (p.Gly53Arg) 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; Carney-Stratakis syndrome; P. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
G53R (p.Gly53Arg) variant details
- p.Gly53Arg
- rs1570958009
- ClinGen CA338227946
- ClinVar RCV001012281
- ClinVar RCV005394625
- Uncertain significance
- Mitochondrial complex 2 deficiency, nuclear type 4; Carney-Stratakis syndrome; P
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- REVEL 0.71
- CADD 24.60
- PolyPhen-2 0.11
- SIFT 0.01
- ClinVar: Uncertain significance (Mitochondrial complex 2 deficiency, nuclear type 4; Carney-Strat)
- EBI: Pathogenic (in PPGL4)
- UniProt: Pathogenic (in PPGL4)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. (PMID 15328326)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)