T20K (p.Thr20Lys) variant of PSTPIP1 (O43586)
T20K (p.Thr20Lys) in PSTPIP1 (O43586) 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 0.46 / 1. The record also includes population frequency data, experimental measurements, and structural context.
T20K (p.Thr20Lys) variant details
- p.Thr20Lys
- cosmic curated COSV51201
- 1000Genomes rs553718554
- ExAC rs553718554
- TOPMed rs553718554
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- MetaLR 0.04
- MetaSVM -1.06
- CADD 23.20
- PolyPhen-2 0.24
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.659