S12I (p.Ser12Ile) variant of SPTA1 (P02549)
S12I (p.Ser12Ile) in SPTA1 (P02549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data.
S12I (p.Ser12Ile) variant details
- p.Ser12Ile
- gnomAD rs1655097890
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- CADD 24.10
- PolyPhen-2 0.90
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)