G38C (p.Gly38Cys) variant of SMARCA2 (P51531)
G38C (p.Gly38Cys) in SMARCA2 (P51531) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Nicolaides-Baraitser syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
G38C (p.Gly38Cys) variant details
- p.Gly38Cys
- rs768632343
- NCI-TCGA Cosmic COSV1005
- cosmic curated COSV10057
- ExAC rs768632343
- Uncertain significance
- Nicolaides-Baraitser syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- REVEL 0.59
- AlphaMissense 0.26
- MetaLR 0.71
- MetaSVM 0.50
- CADD 29.60
- PolyPhen-2 0.98
- ClinVar: Uncertain significance (Nicolaides-Baraitser syndrome)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available