S30A (p.Ser30Ala) variant of TNXB (Tenascin-X)
S30A (p.Ser30Ala) in TNXB (Tenascin-X) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
S30A (p.Ser30Ala) variant details
- p.Ser30Ala
- gnomAD rs1196850911
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 21.20
- PolyPhen-2 0.93
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available