S32N (p.Ser32Asn) variant of ACAT1 (P24752)
S32N (p.Ser32Asn) in ACAT1 (P24752) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
S32N (p.Ser32Asn) variant details
- p.Ser32Asn
- gnomAD 11-108131929-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.16
- CADD 12.90
- PolyPhen-2 0.00
- SIFT 0.24
- Population evidence available
- Structural context available
- Literature evidence available