G14R (p.Gly14Arg) variant of SMARCA2 (P51531)
G14R (p.Gly14Arg) in SMARCA2 (P51531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
G14R (p.Gly14Arg) variant details
- p.Gly14Arg
- cosmic curated COSV61812
- Missense
- Variant Prioritization Score for Impact Estimate 0.727
- REVEL 0.69
- AlphaMissense 0.93
- MetaLR 0.81
- MetaSVM 0.77
- CADD 29.10
- PolyPhen-2 1.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available