P28T (p.Pro28Thr) variant of SDHD (O14521)
P28T (p.Pro28Thr) in SDHD (O14521) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Mitochondrial complex 2 deficiency, nuc. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
P28T (p.Pro28Thr) variant details
- p.Pro28Thr
- rs541477171
- ClinGen CA382616956
- ClinVar RCV002231791
- ClinVar RCV002431616
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Mitochondrial complex 2 deficiency, nuc
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- REVEL 0.76
- AlphaMissense 0.10
- MetaLR 0.65
- MetaSVM 0.34
- CADD 24.70
- PolyPhen-2 0.78
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Mitochondrial complex 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)