A55V (p.Ala55Val) variant of RECQL4 (ATP-dependent DNA helicase Q4)
A55V (p.Ala55Val) in RECQL4 (ATP-dependent DNA helicase Q4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
A55V (p.Ala55Val) variant details
- p.Ala55Val
- Ensembl rs2130740979
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- CADD 15.20
- PolyPhen-2 0.10
- SIFT 0.11
- Population evidence available
- Structural context available