D9A (p.Asp9Ala) variant of PSTPIP1 (O43586)
D9A (p.Asp9Ala) in PSTPIP1 (O43586) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D9A (p.Asp9Ala) variant details
- p.Asp9Ala
- rs1353310784
- gnomAD 15-76994796-GACAG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.234
- CADD 4.95
- Most common in the REMAINING population (allele frequency 2.4e-05)
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.41
- Literature evidence available