P45A (p.Pro45Ala) variant of SMARCE1 (Q969G3)
P45A (p.Pro45Ala) in SMARCE1 (Q969G3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial meningioma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes experimental measurements, published literature, and structural context.
P45A (p.Pro45Ala) variant details
- p.Pro45Ala
- rs1597749741
- ClinGen CA399369632
- ClinVar RCV003526574
- Uncertain significance
- Familial meningioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- AlphaMissense 0.11
- MetaLR 0.18
- MetaSVM -0.89
- PolyPhen-2 0.01
- SIFT 0.10
- MutPred 0.25
- ClinVar: Uncertain significance (Familial meningioma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- SMARCE1 High mobility group box domain domainome 1.0: score -0.526
- Cited in: MN1 C-Terminal Truncation Syndrome. (PMID 32790267)