T135I (p.Thr135Ile) variant of PCSK1 (Neuroendocrine convertase 1)
T135I (p.Thr135Ile) in PCSK1 (Neuroendocrine convertase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
T135I (p.Thr135Ile) variant details
- p.Thr135Ile
- cosmic curated COSV60736
- ESP rs376953881
- ExAC rs376953881
- TOPMed rs376953881
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- REVEL 0.63
- MetaLR 0.68
- MetaSVM 0.38
- CADD 27.50
- PolyPhen-2 0.97
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available