A9V (p.Ala9Val) variant of SMARCA2 (P51531)
A9V (p.Ala9Val) in SMARCA2 (P51531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
A9V (p.Ala9Val) variant details
- p.Ala9Val
- rs773325366
- NCI-TCGA Cosmic COSV6181
- cosmic curated COSV61810
- ClinVar RCV004581162
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.25
- AlphaMissense 0.22
- MetaLR 0.45
- MetaSVM -0.26
- CADD 22.70
- PolyPhen-2 0.30
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: SMARCA2-Related Nicolaides-Baraitser Syndrome. (PMID 26468571)