P45L (p.Pro45Leu) variant of TECRL (Q5HYJ1)
P45L (p.Pro45Leu) in TECRL (Q5HYJ1) is a missense change. 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.
P45L (p.Pro45Leu) variant details
- p.Pro45Leu
- Ensembl rs1724936717
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 17.60
- PolyPhen-2 0.28
- SIFT 0.07
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available