I32T (p.Ile32Thr) variant of GALT (P07902)
I32T (p.Ile32Thr) in GALT (P07902) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
I32T (p.Ile32Thr) variant details
- p.Ile32Thr
- gnomAD 9-34647101-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- REVEL 0.64
- CADD 24.30
- PolyPhen-2 0.04
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available