N58S (p.Asn58Ser) variant of STAG2 (Cohesin subunit SA-2)
N58S (p.Asn58Ser) in STAG2 (Cohesin subunit SA-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
N58S (p.Asn58Ser) variant details
- p.Asn58Ser
- gnomAD X-124031010-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.08
- CADD 16.40
- PolyPhen-2 0.01
- SIFT 0.72
- Population evidence available
- Structural context available
- Literature evidence available