S70N (p.Ser70Asn) variant of PPP2R5D (Q14738)
S70N (p.Ser70Asn) in PPP2R5D (Q14738) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
S70N (p.Ser70Asn) variant details
- p.Ser70Asn
- gnomAD 6-43006566-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.13
- CADD 17.60
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available