S5N (p.Ser5Asn) variant of ID3 (Q02535)
S5N (p.Ser5Asn) in ID3 (Q02535) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and published literature.
S5N (p.Ser5Asn) variant details
- p.Ser5Asn
- gnomAD 1-23559413-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.36
- MetaLR 0.59
- MetaSVM 0.23
- CADD 26.30
- PolyPhen-2 0.96
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Literature evidence available