L4V (p.Leu4Val) variant of ID3 (Q02535)
L4V (p.Leu4Val) in ID3 (Q02535) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data.
L4V (p.Leu4Val) variant details
- p.Leu4Val
- 1000Genomes rs199661785
- ESP rs199661785
- ExAC rs199661785
- TOPMed rs199661785
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.07
- MetaLR 0.06
- MetaSVM -1.00
- CADD 20.50
- PolyPhen-2 0.01
- SIFT 0.47
- Most common in the 1KG:PUR population (allele frequency 0.015)