M43T (p.Met43Thr) variant of SMARCA2 (P51531)
M43T (p.Met43Thr) in SMARCA2 (P51531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
M43T (p.Met43Thr) variant details
- p.Met43Thr
- cosmic curated COSV10057
- gnomAD rs1818955638
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.36
- AlphaMissense 0.85
- MetaLR 0.51
- MetaSVM -0.24
- CADD 23.80
- PolyPhen-2 0.02
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available