P42S (p.Pro42Ser) variant of CHD7 (Q9P2D1)
P42S (p.Pro42Ser) in CHD7 (Q9P2D1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of CHARGE syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P42S (p.Pro42Ser) variant details
- p.Pro42Ser
- rs1300386910
- ClinGen CA371295756
- ClinVar RCV001045599
- gnomAD rs1300386910
- Benign
- CHARGE syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.05
- MetaLR 0.14
- MetaSVM -1.00
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 0.04
- ClinVar: Benign (CHARGE syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available
- CHD7 BRK domain domainome 1.0: score -0.0267
- Cited in: CHD7 Disorder. (PMID 20301296)
- Cited in: Clinical utility gene card for: CHARGE syndrome. (PMID 21407266)