R20P (p.Arg20Pro) variant of RECQL4 (ATP-dependent DNA helicase Q4)
R20P (p.Arg20Pro) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
R20P (p.Arg20Pro) variant details
- p.Arg20Pro
- rs990552711
- ClinGen CA187691286
- ClinVar RCV000706744
- ClinVar RCV005260369
- Uncertain significance
- not provided; Baller-Gerold syndrome; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- CADD 18.70
- PolyPhen-2 0.79
- SIFT 0.01
- ClinVar: Uncertain significance (not provided; Baller-Gerold syndrome; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.2e-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)