K951N (p.Lys951Asn) variant of SMARCA2 (P51531)
K951N (p.Lys951Asn) in SMARCA2 (P51531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes published literature and structural context.
K951N (p.Lys951Asn) variant details
- p.Lys951Asn
- rs1554624100
- ClinVar RCV004593492
- ClinGen CA372785546
- NCI-TCGA Cosmic COSV6180
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- AlphaMissense 1.00
- MetaLR 0.74
- MetaSVM 0.63
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Likely pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: SMARCA2-Related Nicolaides-Baraitser Syndrome. (PMID 26468571)