H19Q (p.His19Gln) variant of PSTPIP1 (O43586)
H19Q (p.His19Gln) in PSTPIP1 (O43586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
H19Q (p.His19Gln) variant details
- p.His19Gln
- gnomAD 15-77018168-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- MetaLR 0.04
- MetaSVM -1.06
- CADD 17.80
- PolyPhen-2 0.27
- SIFT 0.04
- Population evidence available
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.391
- Literature evidence available