L41V (p.Leu41Val) variant of ID3 (Q02535)
L41V (p.Leu41Val) in ID3 (Q02535) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
L41V (p.Leu41Val) variant details
- p.Leu41Val
- gnomAD 1-23559306-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.56
- MetaLR 0.55
- MetaSVM 0.08
- CADD 24.60
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available