L54V (p.Leu54Val) variant of CHD7 (Q9P2D1)
L54V (p.Leu54Val) in CHD7 (Q9P2D1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of CHARGE syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
L54V (p.Leu54Val) variant details
- p.Leu54Val
- rs2487259044
- ClinGen CA371296072
- ClinVar RCV003027973
- Uncertain significance
- CHARGE syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.18
- MetaLR 0.30
- MetaSVM -0.36
- CADD 22.90
- PolyPhen-2 0.42
- SIFT 0.00
- ClinVar: Uncertain significance (CHARGE syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Cited in: CHD7 Disorder. (PMID 20301296)
- Cited in: Clinical utility gene card for: CHARGE syndrome. (PMID 21407266)