P13Q (p.Pro13Gln) variant of MYD88 (Q99836)
P13Q (p.Pro13Gln) in MYD88 (Q99836) 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 0.07 / 1. The record also includes population frequency data and structural context.
P13Q (p.Pro13Gln) variant details
- p.Pro13Gln
- rs587778545
- ClinGen CA160957
- ClinVar RCV000121610
- ExAC rs587778545
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.073
- CADD 0.76
- PolyPhen-2 0.09
- SIFT 0.59
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available