S185N (p.Ser185Asn) variant of PICALM (Q13492)
S185N (p.Ser185Asn) in PICALM (Q13492) 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 0.34 / 1. The record also includes population frequency data and structural context.
S185N (p.Ser185Asn) variant details
- p.Ser185Asn
- rs1172716942
- NCI-TCGA Cosmic COSV1007
- cosmic curated COSV10070
- gnomAD rs1172716942
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.05
- CADD 23.20
- PolyPhen-2 0.01
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:HAN population (allele frequency 0.015)
- Structural context available