P30L (p.Pro30Leu) variant of CHD7 (Q9P2D1)
P30L (p.Pro30Leu) in CHD7 (Q9P2D1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided; CHARGE syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P30L (p.Pro30Leu) variant details
- p.Pro30Leu
- rs768014298
- ClinGen CA4759261
- NCI-TCGA Cosmic COSV1014
- NCI-TCGA Cosmic COSV7110
- Conflicting interpretations
- not specified; not provided; CHARGE syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.18
- MetaLR 0.19
- MetaSVM -0.89
- CADD 23.40
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; CHARGE syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- CHD7 BRK domain domainome 1.0: score -0.381
- Cited in: CHD7 Disorder. (PMID 20301296)
- Cited in: Clinical utility gene card for: CHARGE syndrome. (PMID 21407266)