P25A (p.Pro25Ala) variant of SMARCA2 (P51531)
P25A (p.Pro25Ala) in SMARCA2 (P51531) is a missense change. 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.
P25A (p.Pro25Ala) variant details
- p.Pro25Ala
- Ensembl rs1818953476
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.33
- AlphaMissense 0.21
- MetaLR 0.39
- MetaSVM -0.52
- CADD 22.10
- PolyPhen-2 0.00
- Most common in the African/African-American population (allele frequency 3.1e-05)
- Structural context available