V7G (p.Val7Gly) variant of RECQL4 (ATP-dependent DNA helicase Q4)
V7G (p.Val7Gly) 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 Rothmund-Thomson syndrome type 2; Inborn genetic diseases; Baller-Gerold syndrom. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
V7G (p.Val7Gly) variant details
- p.Val7Gly
- rs781721739
- ClinGen CA4949514
- ClinVar RCV000466943
- ClinVar RCV000764771
- Uncertain significance
- Rothmund-Thomson syndrome type 2; Inborn genetic diseases; Baller-Gerold syndrom
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- CADD 24.50
- PolyPhen-2 0.90
- SIFT 0.00
- ClinVar: Uncertain significance (Rothmund-Thomson syndrome type 2; Inborn genetic diseases; Balle)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.00032)
- Structural context available
- Cited in: Baller-Gerold Syndrome. (PMID 20301383)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)