M39V (p.Met39Val) variant of PSTPIP1 (O43586)
M39V (p.Met39Val) in PSTPIP1 (O43586) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Pyogenic arthritis-pyoderma gangrenosum-acne syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, experimental measurements, and structural context.
M39V (p.Met39Val) variant details
- p.Met39Val
- TOPMed rs2076089652
- Uncertain significance
- Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- MetaLR 0.03
- MetaSVM -1.02
- CADD 14.40
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Pyogenic arthritis-pyoderma gangrenosum-acne syndrome)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -1.03