N102S (p.Asn102Ser) variant of TUBA1A (Tubulin alpha-1A chain)
N102S (p.Asn102Ser) in TUBA1A (Tubulin alpha-1A chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
N102S (p.Asn102Ser) variant details
- p.Asn102Ser
- rs765483435
- gnomAD 12-49186412-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- CADD 12.10
- SIFT 0.71
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.12)
- Structural context available
- Literature evidence available