K34N (p.Lys34Asn) variant of PSTPIP1 (O43586)
K34N (p.Lys34Asn) in PSTPIP1 (O43586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, experimental measurements, and structural context.
K34N (p.Lys34Asn) variant details
- p.Lys34Asn
- ExAC rs760375102
- gnomAD rs760375102
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- MetaLR 0.08
- MetaSVM -1.08
- CADD 27.30
- PolyPhen-2 0.45
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2.4e-05)
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.292