P43T (p.Pro43Thr) variant of NCSTN (Nicastrin)
P43T (p.Pro43Thr) in NCSTN (Nicastrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
P43T (p.Pro43Thr) variant details
- p.Pro43Thr
- gnomAD 1-160343724-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.112
- REVEL 0.05
- CADD 6.86
- SIFT 0.33
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- Structural context available
- Literature evidence available