P23A (p.Pro23Ala) variant of TGM1 (P22735)
P23A (p.Pro23Ala) 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.
P23A (p.Pro23Ala) variant details
- p.Pro23Ala
- TOPMed rs1286022002
- gnomAD rs1286022002
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.27
- CADD 16.70
- PolyPhen-2 0.99
- SIFT 0.81
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available