R4S (p.Arg4Ser) variant of TECRL (Q5HYJ1)
R4S (p.Arg4Ser) in TECRL (Q5HYJ1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
R4S (p.Arg4Ser) variant details
- p.Arg4Ser
- rs867978042
- NCI-TCGA Cosmic COSV6708
- cosmic curated COSV67085
- TOPMed rs867978042
- Uncertain significance
- not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.20
- CADD 15.30
- PolyPhen-2 0.01
- SIFT 0.04
- ClinVar: Uncertain significance (not provided; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-05)
- Structural context available