S87F (p.Ser87Phe) variant of TGM1 (P22735)
S87F (p.Ser87Phe) in TGM1 (P22735) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
S87F (p.Ser87Phe) variant details
- p.Ser87Phe
- Ensembl rs2040817394
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.23
- CADD 13.50
- PolyPhen-2 0.19
- SIFT 0.07
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available