G56R (p.Gly56Arg) variant of SPINK5 (Q9NQ38)
G56R (p.Gly56Arg) in SPINK5 (Q9NQ38) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
G56R (p.Gly56Arg) variant details
- p.Gly56Arg
- rs748409924
- NCI-TCGA Cosmic COSV9980
- cosmic curated COSV99806
- ExAC rs748409924
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.17
- MetaLR 0.06
- MetaSVM -0.99
- CADD 21.40
- PolyPhen-2 0.03
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available