A5S (p.Ala5Ser) variant of SMARCB1 (Q12824)
A5S (p.Ala5Ser) 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 0.74 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A5S (p.Ala5Ser) variant details
- p.Ala5Ser
- rs1928040877
- ClinGen CA410930435
- ClinVar RCV003686185
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- AlphaMissense 0.40
- MetaLR 0.85
- MetaSVM 0.78
- CADD 25.60
- PolyPhen-2 0.03
- SIFT 0.08
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score -0.0955