P29A (p.Pro29Ala) variant of TGM1 (P22735)
P29A (p.Pro29Ala) in TGM1 (P22735) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
P29A (p.Pro29Ala) variant details
- p.Pro29Ala
- gnomAD rs1419399482
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.26
- CADD 18.90
- PolyPhen-2 0.02
- SIFT 0.04
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available