A33V (p.Ala33Val) variant of RECQL4 (ATP-dependent DNA helicase Q4)
A33V (p.Ala33Val) 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 Baller-Gerold syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
A33V (p.Ala33Val) variant details
- p.Ala33Val
- rs2130743732
- ClinGen CA372693468
- ClinVar RCV003508721
- Ensembl rs2130743732
- Uncertain significance
- Baller-Gerold syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- CADD 21.40
- PolyPhen-2 0.34
- SIFT 0.18
- ClinVar: Uncertain significance (Baller-Gerold syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.7e-05)
- Structural context available
- Cited in: Baller-Gerold Syndrome. (PMID 20301383)