P13A (p.Pro13Ala) variant of SMARCA2 (P51531)
P13A (p.Pro13Ala) in SMARCA2 (P51531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
P13A (p.Pro13Ala) variant details
- p.Pro13Ala
- Ensembl rs1818951629
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.30
- AlphaMissense 0.13
- MetaLR 0.52
- MetaSVM -0.28
- CADD 20.60
- PolyPhen-2 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available