K4N (p.Lys4Asn) variant of PPP2R5D (Q14738)
K4N (p.Lys4Asn) in PPP2R5D (Q14738) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
K4N (p.Lys4Asn) variant details
- p.Lys4Asn
- gnomAD rs958700013
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.13
- MetaLR 0.15
- MetaSVM -0.95
- CADD 25.30
- PolyPhen-2 0.02
- SIFT 0.41
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available