S52N (p.Ser52Asn) variant of SMARCA2 (P51531)
S52N (p.Ser52Asn) in SMARCA2 (P51531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
S52N (p.Ser52Asn) variant details
- p.Ser52Asn
- gnomAD 9-2029177-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.30
- AlphaMissense 0.18
- MetaLR 0.57
- MetaSVM -0.15
- CADD 20.90
- PolyPhen-2 0.00
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available