S54F (p.Ser54Phe) variant of SMARCA2 (P51531)
S54F (p.Ser54Phe) in SMARCA2 (P51531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
S54F (p.Ser54Phe) variant details
- p.Ser54Phe
- cosmic curated COSV10524
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.21
- AlphaMissense 0.33
- MetaLR 0.40
- MetaSVM -0.45
- CADD 23.10
- PolyPhen-2 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available