L38R (p.Leu38Arg) variant of ID3 (Q02535)
L38R (p.Leu38Arg) in ID3 (Q02535) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
L38R (p.Leu38Arg) variant details
- p.Leu38Arg
- gnomAD 1-23559314-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.48
- MetaLR 0.47
- MetaSVM -0.05
- CADD 29.80
- PolyPhen-2 0.84
- SIFT 0.06
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available