P15S (p.Pro15Ser) variant of SLC12A1 (Q13621)
P15S (p.Pro15Ser) in SLC12A1 (Q13621) 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 0.25 / 1. The record also includes population frequency data and structural context.
P15S (p.Pro15Ser) variant details
- p.Pro15Ser
- rs1027458847
- NCI-TCGA Cosmic COSV1003
- cosmic curated COSV10037
- NCI-TCGA Cosmic COSV5770
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.15
- MetaLR 0.42
- MetaSVM -0.55
- CADD 14.20
- PolyPhen-2 0.00
- SIFT 0.09
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available