L17V (p.Leu17Val) variant of TGM1 (P22735)
L17V (p.Leu17Val) in TGM1 (P22735) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
L17V (p.Leu17Val) variant details
- p.Leu17Val
- gnomAD rs1258993099
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.37
- CADD 9.55
- PolyPhen-2 0.00
- SIFT 0.30
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available