L48V (p.Leu48Val) variant of RECQL4 (ATP-dependent DNA helicase Q4)
L48V (p.Leu48Val) in RECQL4 (ATP-dependent DNA helicase Q4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Baller-Gerold syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
L48V (p.Leu48Val) variant details
- p.Leu48Val
- rs1273649766
- ClinGen CA372692723
- ClinVar RCV002846631
- ClinVar RCV005636618
- Uncertain significance
- not provided; Baller-Gerold syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- CADD 23.10
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Baller-Gerold syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Baller-Gerold Syndrome. (PMID 20301383)