H46N (p.His46Asn) variant of ID3 (Q02535)
H46N (p.His46Asn) in ID3 (Q02535) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
H46N (p.His46Asn) variant details
- p.His46Asn
- gnomAD 1-23559291-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- REVEL 0.39
- MetaLR 0.78
- MetaSVM 0.38
- CADD 23.30
- PolyPhen-2 0.04
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available