P101L (p.Pro101Leu) variant of TECRL (Q5HYJ1)
P101L (p.Pro101Leu) in TECRL (Q5HYJ1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
P101L (p.Pro101Leu) variant details
- p.Pro101Leu
- cosmic curated COSV10116
- Ensembl rs1718413836
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.23
- ESM-1b 1.00
- AlphaMissense 0.18
- CADD 26.90
- PolyPhen-2 0.54
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available