P24S (p.Pro24Ser) variant of SDHD (O14521)
P24S (p.Pro24Ser) in SDHD (O14521) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Carney-Stratakis syndrome; Cowden syndrome 3; Pheochromocytoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes published literature and structural context.
P24S (p.Pro24Ser) variant details
- p.Pro24Ser
- rs775986509
- ClinGen CA382616935
- ClinVar RCV002005249
- ClinVar RCV002361328
- Conflicting interpretations
- Carney-Stratakis syndrome; Cowden syndrome 3; Pheochromocytoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- AlphaMissense 0.06
- MetaLR 0.60
- MetaSVM -0.43
- PolyPhen-2 0.01
- SIFT 0.86
- EVE 0.10
- ClinVar: Conflicting classifications of pathogenicity (Carney-Stratakis syndrome; Cowden syndrome 3; Pheochromocytoma)
- EBI: Likely benign
- UniProt: Likely benign
- 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)