H31Y (p.His31Tyr) variant of SPINK5 (Q9NQ38)
H31Y (p.His31Tyr) 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 0.09 / 1. The record also includes population frequency data and structural context.
H31Y (p.His31Tyr) variant details
- p.His31Tyr
- NCI-TCGA Cosmic COSV5624
- cosmic curated COSV56249
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0873
- REVEL 0.01
- MetaLR 0.01
- MetaSVM -0.95
- CADD 11.10
- PolyPhen-2 0.07
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available