R29H (p.Arg29His) variant of PSEN2 (Presenilin-2)
R29H (p.Arg29His) in PSEN2 (Presenilin-2) 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 0.40 / 1. The record also includes population frequency data and structural context.
R29H (p.Arg29His) variant details
- p.Arg29His
- rs771375988
- NCI-TCGA Cosmic COSV6091
- cosmic curated COSV60914
- ExAC rs771375988
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.37
- CADD 21.50
- PolyPhen-2 0.56
- SIFT 0.16
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available