L54P (p.Leu54Pro) variant of ID3 (Q02535)
L54P (p.Leu54Pro) in ID3 (Q02535) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
L54P (p.Leu54Pro) variant details
- p.Leu54Pro
- gnomAD 1-23559266-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.86
- REVEL 0.96
- MetaLR 0.98
- MetaSVM 1.08
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available