E40K (p.Glu40Lys) variant of PSTPIP1 (O43586)
E40K (p.Glu40Lys) in PSTPIP1 (O43586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E40K (p.Glu40Lys) variant details
- p.Glu40Lys
- gnomAD rs1455541356
- Missense
- Variant Prioritization Score for Impact Estimate 0.633
- MetaLR 0.09
- MetaSVM -1.10
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.189