S7A (p.Ser7Ala) variant of TECRL (Q5HYJ1)
S7A (p.Ser7Ala) in TECRL (Q5HYJ1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
S7A (p.Ser7Ala) variant details
- p.Ser7Ala
- ExAC rs772612143
- gnomAD rs772612143
- Missense
- Variant Prioritization Score for Impact Estimate 0.12
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 12.70
- PolyPhen-2 0.01
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available