T1321M (p.Thr1321Met) variant of SMARCA2 (P51531)
T1321M (p.Thr1321Met) in SMARCA2 (P51531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Nicolaides-Baraitser syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
T1321M (p.Thr1321Met) variant details
- p.Thr1321Met
- rs2130626814
- ClinGen CA372790864
- NCI-TCGA Cosmic COSV6181
- cosmic curated COSV61810
- Likely pathogenic
- Nicolaides-Baraitser syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- REVEL 0.81
- AlphaMissense 0.85
- MetaLR 0.88
- MetaSVM 0.96
- CADD 28.60
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Nicolaides-Baraitser syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: SMARCA2-Related Nicolaides-Baraitser Syndrome. (PMID 26468571)