R20S (p.Arg20Ser) variant of ID3 (Q02535)
R20S (p.Arg20Ser) in ID3 (Q02535) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
R20S (p.Arg20Ser) variant details
- p.Arg20Ser
- gnomAD 1-23559369-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.26
- MetaLR 0.16
- MetaSVM -0.90
- CADD 24.10
- PolyPhen-2 0.01
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available