M2V (p.Met2Val) variant of SMARCB1 (Q12824)
M2V (p.Met2Val) in SMARCB1 (Q12824) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes experimental measurements and structural context.
M2V (p.Met2Val) variant details
- p.Met2Val
- rs2145951889
- ClinGen CA410930352
- ClinVar RCV002009280
- Ensembl rs2145951889
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- AlphaMissense 0.17
- MetaLR 0.61
- MetaSVM 0.43
- PolyPhen-2 0.00
- SIFT 0.04
- MutPred 0.28
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score -0.199