P25S (p.Pro25Ser) variant of TGM1 (P22735)
P25S (p.Pro25Ser) in TGM1 (P22735) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
P25S (p.Pro25Ser) variant details
- p.Pro25Ser
- ExAC rs753092145
- gnomAD rs753092145
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.33
- CADD 20.40
- PolyPhen-2 0.99
- SIFT 0.31
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available