V53I (p.Val53Ile) variant of SMARCA2 (P51531)
V53I (p.Val53Ile) in SMARCA2 (P51531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
V53I (p.Val53Ile) variant details
- p.Val53Ile
- 1000Genomes rs191818866
- ExAC rs191818866
- gnomAD rs191818866
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.38
- AlphaMissense 0.09
- MetaLR 0.52
- MetaSVM -0.25
- CADD 23.00
- PolyPhen-2 0.06
- Most common in the 1KG:JPT population (allele frequency 0.0049)
- Structural context available