M118T (p.Met118Thr) variant of NLRP1 (Q9C000)
M118T (p.Met118Thr) in NLRP1 (Q9C000) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data.
M118T (p.Met118Thr) variant details
- p.Met118Thr
- ExAC rs748096457
- gnomAD rs748096457
- Missense
- Variant Prioritization Score for Impact Estimate 0.0654
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.59
- Most common in the South Asian population (allele frequency 1.2e-05)