V42I (p.Val42Ile) variant of SPTA1 (P02549)
V42I (p.Val42Ile) in SPTA1 (P02549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data.
V42I (p.Val42Ile) variant details
- p.Val42Ile
- ExAC rs770828837
- gnomAD rs770828837
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- CADD 21.40
- PolyPhen-2 0.13
- SIFT 0.21
- Most common in the East Asian population (allele frequency 0.00015)