R10W (p.Arg10Trp) variant of RECQL4 (ATP-dependent DNA helicase Q4)
R10W (p.Arg10Trp) 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; Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
R10W (p.Arg10Trp) variant details
- p.Arg10Trp
- rs757678397
- ClinGen CA4949513
- ClinVar RCV000686645
- ClinVar RCV005260327
- Uncertain significance
- Baller-Gerold syndrome; Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- AlphaMissense 0.14
- CADD 22.60
- PolyPhen-2 0.90
- SIFT 0.02
- ClinVar: Uncertain significance (Baller-Gerold syndrome; Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 8.1e-05)
- 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)