L11V (p.Leu11Val) variant of CHRNA4 (P43681)
L11V (p.Leu11Val) in CHRNA4 (P43681) 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.
L11V (p.Leu11Val) variant details
- p.Leu11Val
- TOPMed rs1330153997
- gnomAD rs1330153997
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.20
- CADD 13.00
- PolyPhen-2 0.00
- SIFT 0.42
- Most common in the Latino/Admixed American population (allele frequency 3.5e-05)