T6S (p.Thr6Ser) variant of NPPA (Natriuretic peptides A)
T6S (p.Thr6Ser) in NPPA (Natriuretic peptides A) 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 0.17 / 1. The record also includes population frequency data.
T6S (p.Thr6Ser) variant details
- p.Thr6Ser
- NCI-TCGA Cosmic COSV5674
- cosmic curated COSV56740
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- REVEL 0.07
- CADD 9.75
- PolyPhen-2 0.02
- SIFT 0.22
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)