P36S (p.Pro36Ser) variant of CHD7 (Q9P2D1)
P36S (p.Pro36Ser) 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 0.24 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P36S (p.Pro36Ser) variant details
- p.Pro36Ser
- rs1426578628
- ClinGen CA371295620
- ClinVar RCV002771493
- TOPMed rs1426578628
- Benign
- CHARGE syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.04
- MetaLR 0.10
- MetaSVM -1.03
- CADD 15.60
- PolyPhen-2 0.00
- SIFT 0.19
- ClinVar: Benign (CHARGE syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 0.00033)
- Structural context available
- CHD7 BRK domain domainome 1.0: score -0.596
- Cited in: CHD7 Disorder. (PMID 20301296)
- Cited in: Clinical utility gene card for: CHARGE syndrome. (PMID 21407266)