L36F (p.Leu36Phe) variant of SMARCB1 (Q12824)
L36F (p.Leu36Phe) 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 0.78 / 1. The record also includes population frequency data and structural context.
L36F (p.Leu36Phe) variant details
- p.Leu36Phe
- rs2145959920
- ClinGen CA410932407
- cosmic curated COSV10731
- ClinVar RCV001962402
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.782
- CADD 25.60
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available