H46Q (p.His46Gln) variant of ID3 (Q02535)
H46Q (p.His46Gln) in ID3 (Q02535) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
H46Q (p.His46Gln) variant details
- p.His46Gln
- gnomAD 1-23559289-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.35
- MetaLR 0.83
- MetaSVM 0.56
- CADD 24.00
- PolyPhen-2 0.18
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available