P197S (p.Pro197Ser) variant of SDHB (P21912)
P197S (p.Pro197Ser) in SDHB (P21912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic 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 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
P197S (p.Pro197Ser) variant details
- p.Pro197Ser
- rs2077978300
- ClinGen CA338271129
- ClinVar RCV001048320
- ClinVar RCV003380816
- Likely pathogenic
- Mitochondrial complex 2 deficiency, nuclear type 4; Carney-Stratakis syndrome; P
- Missense
- Variant Prioritization Score for Impact Estimate 0.903
- REVEL 0.98
- CADD 28.50
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Mitochondrial complex 2 deficiency, nuclear type 4; Carney-Strat)
- EBI: Likely pathogenic (in PPGL4)
- UniProt: Likely pathogenic (in PPGL4)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)