A70T (p.Ala70Thr) variant of ALPL (P05186)
A70T (p.Ala70Thr) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
A70T (p.Ala70Thr) variant details
- p.Ala70Thr
- rs147116628
- ClinGen CA666433
- ClinVar RCV001768828
- ESP rs147116628
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.47
- CADD 16.90
- PolyPhen-2 0.06
- SIFT 0.45
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available