H19R (p.His19Arg) variant of PSTPIP1 (O43586)
H19R (p.His19Arg) in PSTPIP1 (O43586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
H19R (p.His19Arg) variant details
- p.His19Arg
- rs759653276
- gnomAD 15-76995521-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- CADD 7.59
- SIFT 0.15
- Most common in the East Asian population (allele frequency 0.00023)
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.391
- Literature evidence available