P127A (p.Pro127Ala) variant of TNXB (Tenascin-X)
P127A (p.Pro127Ala) in TNXB (Tenascin-X) 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 and structural context.
P127A (p.Pro127Ala) variant details
- p.Pro127Ala
- ExAC rs746370739
- TOPMed rs746370739
- gnomAD rs746370739
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 17.00
- PolyPhen-2 0.02
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.5e-05)
- Structural context available