P39L (p.Pro39Leu) variant of SDHD (O14521)
P39L (p.Pro39Leu) in SDHD (O14521) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Carney-Stratakis syndrome; Paragangliomas with sensorineural hearing loss; Cowde. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
P39L (p.Pro39Leu) variant details
- p.Pro39Leu
- rs752689382
- ClinGen CA382617022
- ClinVar RCV001010098
- ClinVar RCV001816738
- Uncertain significance
- Carney-Stratakis syndrome; Paragangliomas with sensorineural hearing loss; Cowde
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.50
- CADD 9.93
- PolyPhen-2 0.01
- SIFT 0.26
- ClinVar: Uncertain significance (Carney-Stratakis syndrome; Paragangliomas with sensorineural hea)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-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)