L8V (p.Leu8Val) variant of ALPL (P05186)
L8V (p.Leu8Val) 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 0.44 / 1. The record also includes population frequency data and structural context.
L8V (p.Leu8Val) variant details
- p.Leu8Val
- rs774559268
- ClinGen CA19083720
- ClinVar RCV002633015
- ExAC rs774559268
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.51
- CADD 19.20
- PolyPhen-2 0.01
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 4.7e-05)
- Structural context available