D28Y (p.Asp28Tyr) variant of TECRL (Q5HYJ1)
D28Y (p.Asp28Tyr) in TECRL (Q5HYJ1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
D28Y (p.Asp28Tyr) variant details
- p.Asp28Tyr
- NCI-TCGA Cosmic COSV6708
- TOPMed rs1724942712
- gnomAD rs1724942712
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 16.90
- PolyPhen-2 0.17
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available