L11V (p.Leu11Val) variant of RECQL4 (ATP-dependent DNA helicase Q4)
L11V (p.Leu11Val) in RECQL4 (ATP-dependent DNA helicase Q4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
L11V (p.Leu11Val) variant details
- p.Leu11Val
- gnomAD rs1303764899
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- CADD 22.40
- PolyPhen-2 0.65
- SIFT 0.00
- Population evidence available
- Structural context available