P39R (p.Pro39Arg) variant of TECTA (Alpha-tectorin)
P39R (p.Pro39Arg) in TECTA (Alpha-tectorin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
P39R (p.Pro39Arg) variant details
- p.Pro39Arg
- gnomAD 11-121105882-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.23
- CADD 25.90
- 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