A35T (p.Ala35Thr) variant of SMARCE1 (Q969G3)
A35T (p.Ala35Thr) in SMARCE1 (Q969G3) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Familial meningioma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A35T (p.Ala35Thr) variant details
- p.Ala35Thr
- rs968715592
- NCI-TCGA Cosmic COSV6217
- cosmic curated COSV62177
- TOPMed rs968715592
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Familial meningioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.30
- AlphaMissense 0.13
- MetaLR 0.53
- MetaSVM -0.04
- CADD 23.00
- PolyPhen-2 0.11
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Familial meningioma)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- SMARCE1 High mobility group box domain domainome 1.0: score -0.0142