S144N (p.Ser144Asn) variant of TNXB (Tenascin-X)
S144N (p.Ser144Asn) in TNXB (Tenascin-X) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
S144N (p.Ser144Asn) variant details
- p.Ser144Asn
- gnomAD rs1237423218
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.61
- CADD 24.00
- PolyPhen-2 0.97
- SIFT 0.02
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available