M44V (p.Met44Val) variant of SMARCA2 (P51531)
M44V (p.Met44Val) in SMARCA2 (P51531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
M44V (p.Met44Val) variant details
- p.Met44Val
- rs531812409
- ClinGen CA4962760
- ClinVar RCV003843211
- 1000Genomes rs531812409
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- REVEL 0.49
- AlphaMissense 0.44
- MetaLR 0.76
- MetaSVM 0.57
- CADD 25.50
- PolyPhen-2 0.81
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:PJL population (allele frequency 0.0052)
- Structural context available