D29N (p.Asp29Asn) variant of RECQL4 (ATP-dependent DNA helicase Q4)
D29N (p.Asp29Asn) in RECQL4 (ATP-dependent DNA helicase Q4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
D29N (p.Asp29Asn) variant details
- p.Asp29Asn
- ExAC rs763857743
- gnomAD rs763857743
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.22
- Most common in the South Asian population (allele frequency 1.4e-05)
- Structural context available