P173S (p.Pro173Ser) variant of CACNA2D2 (Q9NY47)
P173S (p.Pro173Ser) in CACNA2D2 (Q9NY47) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. 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.
P173S (p.Pro173Ser) variant details
- p.Pro173Ser
- NCI-TCGA Cosmic COSV5656
- cosmic curated COSV56563
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.05
- MetaLR 0.02
- MetaSVM -0.95
- CADD 22.10
- PolyPhen-2 0.01
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available