A22P (p.Ala22Pro) variant of GALT (P07902)
A22P (p.Ala22Pro) in GALT (P07902) is a missense 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.
A22P (p.Ala22Pro) variant details
- p.Ala22Pro
- gnomAD 9-34646768-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.38
- CADD 16.70
- PolyPhen-2 0.00
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available