L18V (p.Leu18Val) variant of TCF7L2 (Transcription factor 7-like 2)
L18V (p.Leu18Val) in TCF7L2 (Transcription factor 7-like 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
L18V (p.Leu18Val) variant details
- p.Leu18Val
- ExAC rs762639760
- gnomAD rs762639760
- Missense
- Variant Prioritization Score for Impact Estimate 0.628
- CADD 24.30
- PolyPhen-2 0.45
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available