G38A (p.Gly38Ala) variant of SMARCA2 (P51531)
G38A (p.Gly38Ala) in SMARCA2 (P51531) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
G38A (p.Gly38Ala) variant details
- p.Gly38Ala
- ExAC rs774085434
- gnomAD rs774085434
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.39
- AlphaMissense 0.17
- MetaLR 0.54
- MetaSVM -0.09
- CADD 23.10
- PolyPhen-2 0.44
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available