I119V (p.Ile119Val) variant of TECRL (Q5HYJ1)
I119V (p.Ile119Val) in TECRL (Q5HYJ1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data and structural context.
I119V (p.Ile119Val) variant details
- p.Ile119Val
- cosmic curated COSV67090
- ExAC rs749746855
- TOPMed rs749746855
- gnomAD rs749746855
- Missense
- Variant Prioritization Score for Impact Estimate 0.0532
- REVEL 0.02
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.31
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available