S5I (p.Ser5Ile) variant of ID3 (Q02535)
S5I (p.Ser5Ile) in ID3 (Q02535) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data.
S5I (p.Ser5Ile) variant details
- p.Ser5Ile
- ExAC rs757175117
- gnomAD rs757175117
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- REVEL 0.66
- MetaLR 0.56
- MetaSVM 0.18
- CADD 27.30
- PolyPhen-2 0.85
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00021)