H31R (p.His31Arg) variant of SPINK5 (Q9NQ38)
H31R (p.His31Arg) in SPINK5 (Q9NQ38) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
H31R (p.His31Arg) variant details
- p.His31Arg
- TOPMed rs1752703984
- gnomAD rs1752703984
- Missense
- Variant Prioritization Score for Impact Estimate 0.0587
- REVEL 0.01
- MetaLR 0.01
- MetaSVM -0.94
- CADD 0.02
- PolyPhen-2 0.04
- SIFT 0.19
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available