P52R (p.Pro52Arg) variant of CHD7 (Q9P2D1)
P52R (p.Pro52Arg) in CHD7 (Q9P2D1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hypogonadotropic hypogonadism 5 with or without anosmia; CHARGE syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
P52R (p.Pro52Arg) variant details
- p.Pro52Arg
- rs377710972
- ClinGen CA177312424
- ClinVar RCV003603696
- ClinVar RCV005040475
- Conflicting interpretations
- Hypogonadotropic hypogonadism 5 with or without anosmia; CHARGE syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.04
- MetaLR 0.15
- MetaSVM -0.82
- CADD 20.80
- PolyPhen-2 0.01
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Hypogonadotropic hypogonadism 5 with or without anosmia; CHARGE)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: CHD7 Disorder. (PMID 20301296)
- Cited in: Clinical utility gene card for: CHARGE syndrome. (PMID 21407266)