I2N (p.Ile2Asn) variant of ALPL (P05186)
I2N (p.Ile2Asn) in ALPL (P05186) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
I2N (p.Ile2Asn) variant details
- p.Ile2Asn
- TOPMed rs1644366657
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.42
- CADD 23.70
- PolyPhen-2 0.03
- SIFT 0.05
- Most common in the HGDP:PATHAN population (allele frequency 0.021)
- Structural context available