A33S (p.Ala33Ser) variant of RECQL4 (ATP-dependent DNA helicase Q4)
A33S (p.Ala33Ser) in RECQL4 (ATP-dependent DNA helicase Q4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
A33S (p.Ala33Ser) variant details
- p.Ala33Ser
- Ensembl rs2130743747
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- CADD 22.00
- PolyPhen-2 0.84
- SIFT 0.39
- Population evidence available
- Structural context available