V31G (p.Val31Gly) variant of RECQL4 (ATP-dependent DNA helicase Q4)
V31G (p.Val31Gly) 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 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
V31G (p.Val31Gly) variant details
- p.Val31Gly
- rs904809747
- ClinGen CA187691145
- ClinVar RCV000540021
- ClinVar RCV003133310
- Uncertain significance
- not provided; Baller-Gerold syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.669
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Baller-Gerold syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.0014)
- Structural context available
- Cited in: Baller-Gerold Syndrome. (PMID 20301383)