R23P (p.Arg23Pro) variant of TECRL (Q5HYJ1)
R23P (p.Arg23Pro) in TECRL (Q5HYJ1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
R23P (p.Arg23Pro) variant details
- p.Arg23Pro
- ExAC rs760208676
- TOPMed rs760208676
- gnomAD rs760208676
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 6.50
- PolyPhen-2 0.32
- SIFT 0.16
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available