V31M (p.Val31Met) variant of SPTA1 (P02549)
V31M (p.Val31Met) in SPTA1 (P02549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data.
V31M (p.Val31Met) variant details
- p.Val31Met
- TOPMed rs993458519
- gnomAD rs993458519
- Missense
- Variant Prioritization Score for Impact Estimate 0.79
- CADD 26.50
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)