V18L (p.Val18Leu) variant of TECTA (Alpha-tectorin)
V18L (p.Val18Leu) in TECTA (Alpha-tectorin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
V18L (p.Val18Leu) variant details
- p.Val18Leu
- cosmic curated COSV50712
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.04
- MetaLR 0.05
- MetaSVM -1.08
- CADD 17.50
- PolyPhen-2 0.00
- SIFT 0.49
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available