P33R (p.Pro33Arg) variant of CHD7 (Q9P2D1)
P33R (p.Pro33Arg) in CHD7 (Q9P2D1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Inborn genetic diseases; not provided; CHARGE syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P33R (p.Pro33Arg) variant details
- p.Pro33Arg
- rs763572916
- ClinGen CA4759263
- ClinVar RCV001719089
- ClinVar RCV002066678
- Benign/Likely benign
- Inborn genetic diseases; not provided; CHARGE syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.08
- MetaLR 0.20
- MetaSVM -0.81
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.00
- ClinVar: Benign/Likely benign (Inborn genetic diseases; not provided; CHARGE syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- CHD7 BRK domain domainome 1.0: score -0.155
- Cited in: CHD7 Disorder. (PMID 20301296)
- Cited in: Clinical utility gene card for: CHARGE syndrome. (PMID 21407266)