V31A (p.Val31Ala) variant of RECQL4 (ATP-dependent DNA helicase Q4)
V31A (p.Val31Ala) 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 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
V31A (p.Val31Ala) variant details
- p.Val31Ala
- rs904809747
- ClinGen CA372693510
- ClinVar RCV003081388
- Uncertain significance
- Baller-Gerold syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- CADD 25.60
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Baller-Gerold syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.8e-05)
- Structural context available
- Cited in: Baller-Gerold Syndrome. (PMID 20301383)