T38N (p.Thr38Asn) variant of RECQL4 (ATP-dependent DNA helicase Q4)
T38N (p.Thr38Asn) 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; Rothmund-Thomson syndrome type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
T38N (p.Thr38Asn) variant details
- p.Thr38Asn
- rs1348040384
- ClinGen CA372693375
- ClinVar RCV001367172
- ClinVar RCV003444847
- Uncertain significance
- Inborn genetic diseases; Baller-Gerold syndrome; Rothmund-Thomson syndrome type
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- CADD 23.20
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Baller-Gerold syndrome; Rothmund-Thomso)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-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)