N14S (p.Asn14Ser) variant of TUBB3 (Tubulin beta-3 chain)
N14S (p.Asn14Ser) in TUBB3 (Tubulin beta-3 chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
N14S (p.Asn14Ser) variant details
- p.Asn14Ser
- gnomAD 16-89923442-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.53
- CADD 25.00
- PolyPhen-2 0.14
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available