S5R (p.Ser5Arg) variant of ID3 (Q02535)
S5R (p.Ser5Arg) in ID3 (Q02535) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and published literature.
S5R (p.Ser5Arg) variant details
- p.Ser5Arg
- gnomAD 1-23559412-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.49
- MetaLR 0.50
- MetaSVM -0.13
- CADD 23.90
- PolyPhen-2 0.97
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Literature evidence available