G1164R (p.Gly1164Arg) variant of SMARCA2 (P51531)
G1164R (p.Gly1164Arg) 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 0.87 / 1. The record also includes population frequency data and structural context.
G1164R (p.Gly1164Arg) variant details
- p.Gly1164Arg
- rs2130599584
- ClinGen CA372788687
- NCI-TCGA Cosmic COSV6180
- NCI-TCGA Cosmic COSV6181
- Likely pathogenic
- Nicolaides-Baraitser syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.871
- REVEL 0.88
- AlphaMissense 1.00
- MetaLR 0.90
- MetaSVM 1.07
- CADD 32.00
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Nicolaides-Baraitser syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available