P39S (p.Pro39Ser) variant of TECTA (Alpha-tectorin)
P39S (p.Pro39Ser) in TECTA (Alpha-tectorin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
P39S (p.Pro39Ser) variant details
- p.Pro39Ser
- gnomAD 11-121105881-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.22
- CADD 23.80
- PolyPhen-2 0.99
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available