M44T (p.Met44Thr) variant of ID3 (Q02535)
M44T (p.Met44Thr) in ID3 (Q02535) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
M44T (p.Met44Thr) variant details
- p.Met44Thr
- gnomAD 1-23559296-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.866
- REVEL 0.97
- MetaLR 0.96
- MetaSVM 1.10
- CADD 29.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available