S22T (p.Ser22Thr) variant of PMP22 (Peripheral myelin protein 22)
S22T (p.Ser22Thr) in PMP22 (Peripheral myelin protein 22) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
S22T (p.Ser22Thr) variant details
- p.Ser22Thr
- gnomAD rs1300756669
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.30
- AlphaMissense 0.61
- MetaLR 0.47
- MetaSVM -0.47
- CADD 24.20
- PolyPhen-2 0.04
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available