A100V (p.Ala100Val) variant of PLAT (P00750)
A100V (p.Ala100Val) in PLAT (P00750) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
A100V (p.Ala100Val) variant details
- p.Ala100Val
- ESP rs149424073
- ExAC rs149424073
- TOPMed rs149424073
- gnomAD rs149424073
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.49
- CADD 23.50
- PolyPhen-2 0.60
- SIFT 0.11
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available