L38V (p.Leu38Val) variant of ID3 (Q02535)
L38V (p.Leu38Val) in ID3 (Q02535) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
L38V (p.Leu38Val) variant details
- p.Leu38Val
- gnomAD 1-23559315-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.08
- MetaLR 0.19
- MetaSVM -0.81
- CADD 22.30
- PolyPhen-2 0.08
- SIFT 0.34
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available