L54V (p.Leu54Val) variant of ID3 (Q02535)
L54V (p.Leu54Val) in ID3 (Q02535) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
L54V (p.Leu54Val) variant details
- p.Leu54Val
- ExAC rs748044061
- gnomAD rs748044061
- Missense
- Variant Prioritization Score for Impact Estimate 0.748
- REVEL 0.84
- MetaLR 0.96
- MetaSVM 1.08
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available