N80K (p.Asn80Lys) variant of CASP3 (Caspase-3)
N80K (p.Asn80Lys) in CASP3 (Caspase-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
N80K (p.Asn80Lys) variant details
- p.Asn80Lys
- gnomAD 4-184632335-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.07
- CADD 14.60
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available