P28A (p.Pro28Ala) variant of SDHD (O14521)
P28A (p.Pro28Ala) in SDHD (O14521) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pheochromocytoma; Cowden syndrome 3; Carney-Stratakis syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
P28A (p.Pro28Ala) variant details
- p.Pro28Ala
- rs541477171
- ClinGen CA382616957
- ClinVar RCV002544660
- 1000Genomes rs541477171
- Uncertain significance
- Pheochromocytoma; Cowden syndrome 3; Carney-Stratakis syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- AlphaMissense 0.10
- MetaLR 0.65
- MetaSVM 0.34
- PolyPhen-2 0.78
- SIFT 0.02
- EVE 0.18
- ClinVar: Uncertain significance (Pheochromocytoma; Cowden syndrome 3; Carney-Stratakis syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)