P31S (p.Pro31Ser) variant of RELN (Reelin)
P31S (p.Pro31Ser) in RELN (Reelin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Norman-Roberts syndrome; Familial temporal lobe epilepsy 7. The record also includes variant effect predictions and population frequency data.
P31S (p.Pro31Ser) variant details
- p.Pro31Ser
- rs752774374
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10063
- ExAC rs752774374
- Uncertain significance
- Norman-Roberts syndrome; Familial temporal lobe epilepsy 7
- Missense
- REVEL 0.38
- MetaLR 0.11
- MetaSVM -0.89
- CADD 25.70
- PolyPhen-2 0.99
- SIFT 0.10
- ClinVar: Uncertain significance (Norman-Roberts syndrome; Familial temporal lobe epilepsy 7)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)