A86T (p.Ala86Thr) variant of NLRP1 (Q9C000)
A86T (p.Ala86Thr) 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 0.18 / 1. The record also includes population frequency data.
A86T (p.Ala86Thr) variant details
- p.Ala86Thr
- rs755043231
- NCI-TCGA Cosmic COSV5256
- cosmic curated COSV52561
- ExAC rs755043231
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- CADD 9.12
- PolyPhen-2 0.01
- SIFT 0.13
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 3.7e-06)