P108A (p.Pro108Ala) variant of NLRP1 (Q9C000)
P108A (p.Pro108Ala) in NLRP1 (Q9C000) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data.
P108A (p.Pro108Ala) variant details
- p.Pro108Ala
- rs141118572
- cosmic curated COSV99335
- ESP rs141118572
- ExAC rs141118572
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- CADD 14.00
- PolyPhen-2 0.22
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)