P35A (p.Pro35Ala) variant of RECQL4 (ATP-dependent DNA helicase Q4)
P35A (p.Pro35Ala) 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 Inborn genetic diseases; Baller-Gerold syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
P35A (p.Pro35Ala) variant details
- p.Pro35Ala
- rs1304842985
- ClinGen CA372693442
- ClinVar RCV001299263
- ClinVar RCV004960706
- Uncertain significance
- Inborn genetic diseases; Baller-Gerold syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- AlphaMissense 0.14
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Baller-Gerold syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)