Q54R (p.Gln54Arg) variant of RECQL4 (ATP-dependent DNA helicase Q4)
Q54R (p.Gln54Arg) in RECQL4 (ATP-dependent DNA helicase Q4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Rothmund-Thomson syndrome type 2; Hereditary cancer-predisposing syndrome; not s. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
Q54R (p.Gln54Arg) variant details
- p.Gln54Arg
- rs35198096
- ClinGen CA161871
- ClinVar RCV000121958
- ClinVar RCV000444390
- Benign/Likely benign
- Rothmund-Thomson syndrome type 2; Hereditary cancer-predisposing syndrome; not s
- Missense
- Variant Prioritization Score for Impact Estimate 0.148
- AlphaMissense 0.07
- CADD 6.66
- PolyPhen-2 0.00
- SIFT 0.13
- ClinVar: Benign/Likely benign (Rothmund-Thomson syndrome type 2; Hereditary cancer-predisposing)
- EBI: Benign (in dbSNP:rs35198096)
- UniProt: Benign (in dbSNP:rs35198096)
- Most common in the HGDP:BIAKA population (allele frequency 0.2)
- Structural context available
- Cited in: Baller-Gerold Syndrome. (PMID 20301383)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)