P50S (p.Pro50Ser) variant of TECRL (Q5HYJ1)
P50S (p.Pro50Ser) in TECRL (Q5HYJ1) is a missense change. Clinical records from ClinVar, EBI, 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 0.08 / 1. The record also includes population frequency data and structural context.
P50S (p.Pro50Ser) variant details
- p.Pro50Ser
- rs202057496
- ClinGen CA2935683
- ClinVar RCV002389661
- 1000Genomes rs202057496
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.0825
- REVEL 0.02
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 2.09
- PolyPhen-2 0.00
- SIFT 0.12
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available