R3L (p.Arg3Leu) variant of RECQL4 (ATP-dependent DNA helicase Q4)
R3L (p.Arg3Leu) 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; not provided; Baller-Gerold syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
R3L (p.Arg3Leu) variant details
- p.Arg3Leu
- rs979012066
- ClinGen CA16612435
- ClinVar RCV000468790
- ClinVar RCV001293916
- Uncertain significance
- Rothmund-Thomson syndrome type 2; not provided; Baller-Gerold syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- CADD 22.90
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Uncertain significance (Rothmund-Thomson syndrome type 2; not provided; Baller-Gerold sy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ASW population (allele frequency 0.0098)
- Structural context available
- Cited in: Baller-Gerold Syndrome. (PMID 20301383)
- Cited in: Rothmund-Thomson Syndrome. (PMID 20301415)