P30A (p.Pro30Ala) variant of TECTA (Alpha-tectorin)
P30A (p.Pro30Ala) in TECTA (Alpha-tectorin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
P30A (p.Pro30Ala) variant details
- p.Pro30Ala
- gnomAD 11-121105854-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.609
- REVEL 0.49
- CADD 24.70
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available