V15A (p.Val15Ala) variant of SMARCB1 (Q12824)
V15A (p.Val15Ala) 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 0.54 / 1. The record also includes experimental measurements and structural context.
V15A (p.Val15Ala) variant details
- p.Val15Ala
- rs1928044034
- ClinGen CA410930677
- ClinVar RCV001067822
- Ensembl rs1928044034
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- AlphaMissense 0.20
- MetaLR 0.66
- MetaSVM -0.01
- PolyPhen-2 0.00
- SIFT 0.74
- MutPred 0.21
- 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 0.116