R27K (p.Arg27Lys) variant of SDHD (O14521)
R27K (p.Arg27Lys) in SDHD (O14521) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Cowden syndrome 3; Pheochromocytoma; Carney-Stratakis syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
R27K (p.Arg27Lys) variant details
- p.Arg27Lys
- rs200671534
- ClinGen CA071556
- ClinVar RCV000401338
- ClinVar RCV000570227
- Benign/Likely benign
- Cowden syndrome 3; Pheochromocytoma; Carney-Stratakis syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.52
- CADD 21.00
- PolyPhen-2 0.02
- SIFT 0.09
- ClinVar: Benign/Likely benign (Cowden syndrome 3; Pheochromocytoma; Carney-Stratakis syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:STU population (allele frequency 0.0051)
- 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)