S42A (p.Ser42Ala) variant of TGM1 (P22735)
S42A (p.Ser42Ala) in TGM1 (P22735) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
S42A (p.Ser42Ala) variant details
- p.Ser42Ala
- Ensembl rs1566381476
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.30
- CADD 13.50
- PolyPhen-2 0.06
- SIFT 0.63
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available