P94S (p.Pro94Ser) variant of NLRP1 (Q9C000)
P94S (p.Pro94Ser) in NLRP1 (Q9C000) 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 0.30 / 1. The record also includes population frequency data.
P94S (p.Pro94Ser) variant details
- p.Pro94Ser
- rs777635766
- NCI-TCGA Cosmic COSV5256
- cosmic curated COSV52568
- ExAC rs777635766
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- AlphaMissense 0.09
- MetaLR 0.10
- MetaSVM -1.01
- PolyPhen-2 0.00
- SIFT 0.22
- EVE 0.09
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available