G56E (p.Gly56Glu) variant of SPINK5 (Q9NQ38)
G56E (p.Gly56Glu) in SPINK5 (Q9NQ38) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
G56E (p.Gly56Glu) variant details
- p.Gly56Glu
- cosmic curated COSV10719
- Missense
- Variant Prioritization Score for Impact Estimate 0.127
- REVEL 0.09
- MetaLR 0.04
- MetaSVM -0.96
- CADD 5.38
- PolyPhen-2 0.02
- SIFT 0.25
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available