L1302P (p.Leu1302Pro) variant of CHD7 (Q9P2D1)
L1302P (p.Leu1302Pro) in CHD7 (Q9P2D1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of CHARGE syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes published literature and structural context.
L1302P (p.Leu1302Pro) variant details
- p.Leu1302Pro
- rs1563643394
- ClinGen CA371316358
- ClinVar RCV000770778
- UniProt VAR 072961
- Pathogenic
- CHARGE syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- AlphaMissense 1.00
- MetaLR 0.83
- MetaSVM 0.94
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.49
- ClinVar: Pathogenic (CHARGE syndrome)
- EBI: Pathogenic (in CHARGES)
- UniProt: Pathogenic (in CHARGES)
- Structural context available
- Cited in: CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome. (PMID 18445044)
- Cited in: CHD7 Disorder. (PMID 20301296)