H42H (p.His42His) variant of AIP (AH receptor-interacting protein)
H42H (p.His42His) in AIP (AH receptor-interacting protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
H42H (p.His42His) variant details
- p.His42His
- rs2134251024
- gnomAD 11-67487032-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.32
- AlphaMissense 0.12
- MetaLR 0.25
- MetaSVM -0.86
- CADD 7.30
- SIFT 0.16
- MutPred 0.43
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Literature evidence available