A23S (p.Ala23Ser) variant of ID3 (Q02535)
A23S (p.Ala23Ser) in ID3 (Q02535) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and published literature.
A23S (p.Ala23Ser) variant details
- p.Ala23Ser
- gnomAD 1-23559360-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.12
- MetaLR 0.22
- MetaSVM -0.75
- CADD 20.50
- PolyPhen-2 0.12
- SIFT 0.36
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Literature evidence available