S26P (p.Ser26Pro) variant of SDHB (P21912)
S26P (p.Ser26Pro) in SDHB (P21912) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
S26P (p.Ser26Pro) variant details
- p.Ser26Pro
- Ensembl rs1570958165
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.40
- CADD 22.20
- PolyPhen-2 0.04
- SIFT 0.29
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available