M39T (p.Met39Thr) variant of PSTPIP1 (O43586)
M39T (p.Met39Thr) in PSTPIP1 (O43586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, experimental measurements, and structural context.
M39T (p.Met39Thr) variant details
- p.Met39Thr
- gnomAD rs1260831469
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- MetaLR 0.10
- MetaSVM -0.82
- CADD 23.50
- PolyPhen-2 0.10
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -1.03