K38R (p.Lys38Arg) variant of TECRL (Q5HYJ1)
K38R (p.Lys38Arg) in TECRL (Q5HYJ1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
K38R (p.Lys38Arg) variant details
- p.Lys38Arg
- rs2475861860
- ClinGen CA357149221
- ClinVar RCV004469459
- Likely benign
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 9.24
- PolyPhen-2 0.00
- SIFT 0.14
- ClinVar: Likely benign (Cardiovascular phenotype)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available