S2A (p.Ser2Ala) variant of SMARCA2 (P51531)
S2A (p.Ser2Ala) in SMARCA2 (P51531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
S2A (p.Ser2Ala) variant details
- p.Ser2Ala
- gnomAD 9-2029026-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.25
- AlphaMissense 0.11
- MetaLR 0.39
- MetaSVM -0.56
- CADD 22.50
- PolyPhen-2 0.00
- Most common in the South Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available