P31Q (p.Pro31Gln) variant of SMARCA2 (P51531)
P31Q (p.Pro31Gln) in SMARCA2 (P51531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
P31Q (p.Pro31Gln) variant details
- p.Pro31Gln
- gnomAD 9-2029114-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- REVEL 0.45
- AlphaMissense 0.46
- MetaLR 0.79
- MetaSVM 0.67
- CADD 24.30
- PolyPhen-2 1.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available