K34T (p.Lys34Thr) variant of PSTPIP1 (O43586)
K34T (p.Lys34Thr) in PSTPIP1 (O43586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K34T (p.Lys34Thr) variant details
- p.Lys34Thr
- gnomAD 15-77018212-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- MetaLR 0.07
- MetaSVM -1.10
- CADD 24.00
- PolyPhen-2 0.42
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.292
- Literature evidence available