M30I (p.Met30Ile) variant of TECRL (Q5HYJ1)
M30I (p.Met30Ile) 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 0.28 / 1. The record also includes population frequency data and structural context.
M30I (p.Met30Ile) variant details
- p.Met30Ile
- rs1056139699
- ClinGen CA98684132
- ClinVar RCV002450017
- TOPMed rs1056139699
- Likely benign
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 9.23
- PolyPhen-2 0.00
- SIFT 0.16
- ClinVar: Likely benign (Cardiovascular phenotype)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available