L78P (p.Leu78Pro) variant of TECTA (Alpha-tectorin)
L78P (p.Leu78Pro) in TECTA (Alpha-tectorin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
L78P (p.Leu78Pro) variant details
- p.Leu78Pro
- gnomAD 11-121109245-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.19
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.25
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available