L4P (p.Leu4Pro) variant of SDHC (Q99643)
L4P (p.Leu4Pro) in SDHC (Q99643) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Gastrointestinal stromal tumor; Hereditary cancer-predisposing syn. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
L4P (p.Leu4Pro) variant details
- p.Leu4Pro
- rs774299337
- ClinGen CA045713
- ClinVar RCV000411462
- ClinVar RCV000547937
- Uncertain significance
- not provided; Gastrointestinal stromal tumor; Hereditary cancer-predisposing syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- REVEL 0.72
- AlphaMissense 0.22
- MetaLR 0.86
- MetaSVM 0.95
- CADD 24.30
- PolyPhen-2 0.03
- ClinVar: Uncertain significance (not provided; Gastrointestinal stromal tumor; Hereditary cancer-)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- 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)