L35P (p.Leu35Pro) variant of SDHD (O14521)
L35P (p.Leu35Pro) in SDHD (O14521) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cowden syndrome 3; Carney-Stratakis syndrome; Pheochromocytoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
L35P (p.Leu35Pro) variant details
- p.Leu35Pro
- rs11547892
- ClinGen CA228551096
- ClinVar RCV003278395
- ClinVar RCV005209609
- Uncertain significance
- Cowden syndrome 3; Carney-Stratakis syndrome; Pheochromocytoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- REVEL 0.64
- CADD 24.50
- PolyPhen-2 0.01
- SIFT 0.10
- ClinVar: Uncertain significance (Cowden syndrome 3; Carney-Stratakis syndrome; Pheochromocytoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-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)