Q36P (p.Gln36Pro) variant of SDHD (O14521)
Q36P (p.Gln36Pro) in SDHD (O14521) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; not provided; Carney-Stratakis syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
Q36P (p.Gln36Pro) variant details
- p.Gln36Pro
- rs759143732
- ClinGen CA070587
- ClinVar RCV002242725
- ClinVar RCV002420807
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Carney-Stratakis syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.59
- CADD 23.50
- PolyPhen-2 0.01
- SIFT 0.18
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; Carney-St)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)