L26S (p.Leu26Ser) variant of SDHA (P31040)
L26S (p.Leu26Ser) in SDHA (P31040) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
L26S (p.Leu26Ser) variant details
- p.Leu26Ser
- TOPMed rs1734829729
- Likely benign
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.0658
- REVEL 0.06
- CADD 0.70
- PolyPhen-2 0.00
- SIFT 0.59
- ClinVar: Likely benign (Hereditary cancer-predisposing syndrome)
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available