P11A (p.Pro11Ala) variant of ALK (ALK tyrosine kinase receptor)
P11A (p.Pro11Ala) in ALK (ALK tyrosine kinase receptor) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
P11A (p.Pro11Ala) variant details
- p.Pro11Ala
- ExAC rs775832910
- gnomAD rs775832910
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- REVEL 0.07
- MetaLR 0.23
- MetaSVM -0.92
- CADD 9.28
- PolyPhen-2 0.00
- SIFT 0.65
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available