P63H (p.Pro63His) variant of TGM1 (P22735)
P63H (p.Pro63His) in TGM1 (P22735) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
P63H (p.Pro63His) variant details
- p.Pro63His
- ExAC rs775398833
- gnomAD rs775398833
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.26
- CADD 15.60
- PolyPhen-2 0.09
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available