P41A (p.Pro41Ala) variant of SDHD (O14521)
P41A (p.Pro41Ala) 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 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
P41A (p.Pro41Ala) variant details
- p.Pro41Ala
- rs764006625
- ClinGen CA382617028
- ClinVar RCV002233052
- ClinVar RCV004948515
- Uncertain significance
- Pheochromocytoma; Cowden syndrome 3; Carney-Stratakis syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- REVEL 0.58
- CADD 14.90
- PolyPhen-2 0.01
- SIFT 0.17
- ClinVar: Uncertain significance (Pheochromocytoma; Cowden syndrome 3; Carney-Stratakis syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.4e-05)
- 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)