S7P (p.Ser7Pro) variant of TECRL (Q5HYJ1)
S7P (p.Ser7Pro) in TECRL (Q5HYJ1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
S7P (p.Ser7Pro) variant details
- p.Ser7Pro
- ExAC rs772612143
- gnomAD rs772612143
- Missense
- Variant Prioritization Score for Impact Estimate 0.128
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 13.60
- PolyPhen-2 0.00
- SIFT 0.28
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available