P5S (p.Pro5Ser) variant of TGM1 (P22735)
P5S (p.Pro5Ser) in TGM1 (P22735) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
P5S (p.Pro5Ser) variant details
- p.Pro5Ser
- gnomAD rs1289089282
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.41
- CADD 15.00
- PolyPhen-2 0.00
- SIFT 0.29
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available