S18N (p.Ser18Asn) variant of CHD7 (Q9P2D1)
S18N (p.Ser18Asn) in CHD7 (Q9P2D1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of CHARGE syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S18N (p.Ser18Asn) variant details
- p.Ser18Asn
- rs1280305079
- ClinGen CA371295229
- ClinVar RCV001233272
- gnomAD rs1280305079
- Uncertain significance
- CHARGE syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.06
- MetaLR 0.18
- MetaSVM -0.74
- CADD 19.40
- PolyPhen-2 0.00
- SIFT 0.15
- ClinVar: Uncertain significance (CHARGE syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- CHD7 BRK domain domainome 1.0: score -0.0653
- Cited in: CHD7 Disorder. (PMID 20301296)
- Cited in: Clinical utility gene card for: CHARGE syndrome. (PMID 21407266)