I40L (p.Ile40Leu) variant of SDHD (O14521)
I40L (p.Ile40Leu) in SDHD (O14521) 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 3; Carney-Stratakis syndrome; P. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
I40L (p.Ile40Leu) variant details
- p.Ile40Leu
- rs146276662
- ClinGen CA277884
- ClinVar RCV000202919
- ClinVar RCV000575031
- Conflicting interpretations
- Mitochondrial complex 2 deficiency, nuclear type 3; Carney-Stratakis syndrome; P
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.50
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.74
- ClinVar: Conflicting classifications of pathogenicity (Mitochondrial complex 2 deficiency, nuclear type 3; Carney-Strat)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00013)
- 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)