Q21H (p.Gln21His) variant of RECQL4 (ATP-dependent DNA helicase Q4)
Q21H (p.Gln21His) in RECQL4 (ATP-dependent DNA helicase Q4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
Q21H (p.Gln21His) variant details
- p.Gln21His
- Ensembl rs2130745479
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- CADD 22.30
- PolyPhen-2 0.75
- SIFT 0.04
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available