M4L (p.Met4Leu) variant of SMARCB1 (Q12824)
M4L (p.Met4Leu) 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 0.58 / 1. The record also includes population frequency data, experimental measurements, and structural context.
M4L (p.Met4Leu) variant details
- p.Met4Leu
- rs772433022
- ClinGen CA10145814
- ClinVar RCV003038640
- ExAC rs772433022
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.17
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score -0.599