D35H (p.Asp35His) variant of TECTA (Alpha-tectorin)
D35H (p.Asp35His) in TECTA (Alpha-tectorin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
D35H (p.Asp35His) variant details
- p.Asp35His
- gnomAD 11-121105869-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- REVEL 0.44
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available