S53T (p.Ser53Thr) variant of AIP (AH receptor-interacting protein)
S53T (p.Ser53Thr) in AIP (AH receptor-interacting protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
S53T (p.Ser53Thr) variant details
- p.Ser53Thr
- gnomAD 11-67487064-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.765
- REVEL 0.73
- MetaLR 0.85
- MetaSVM 0.76
- CADD 24.00
- PolyPhen-2 0.80
- SIFT 0.08
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Literature evidence available