G79A (p.Gly79Ala) variant of SPTBN2 (O15020)
G79A (p.Gly79Ala) in SPTBN2 (O15020) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
G79A (p.Gly79Ala) variant details
- p.Gly79Ala
- TOPMed rs1942122301
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.13
- CADD 16.40
- PolyPhen-2 0.09
- SIFT 0.37
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available