S75L (p.Ser75Leu) variant of PPP2R5D (Q14738)
S75L (p.Ser75Leu) in PPP2R5D (Q14738) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
S75L (p.Ser75Leu) variant details
- p.Ser75Leu
- gnomAD 6-43006581-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.25
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available