I2V (p.Ile2Val) variant of ALPL (P05186)
I2V (p.Ile2Val) in ALPL (P05186) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
I2V (p.Ile2Val) variant details
- p.Ile2Val
- Ensembl rs776442538
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.17
- CADD 18.80
- PolyPhen-2 0.01
- SIFT 0.36
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available