S24L (p.Ser24Leu) variant of PPP2R5D (Q14738)
S24L (p.Ser24Leu) in PPP2R5D (Q14738) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
S24L (p.Ser24Leu) variant details
- p.Ser24Leu
- rs770645870
- ClinGen CA3811724
- cosmic curated COSV57839
- ClinVar RCV000900015
- Benign/Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.11
- MetaLR 0.05
- MetaSVM -1.08
- CADD 21.80
- PolyPhen-2 0.03
- SIFT 0.20
- ClinVar: Benign/Likely benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00056)
- Structural context available